Hyperlipoproteinemia TypeI

Alternative name(s) : Lipoprotein lipase deficiency, LPLD, LPL deficiency, Familial hyperchylomicronemia, Idiopathic hyperlipemia, Burger-Grutz type, Essential familial hyperlipemia, Lipase D deficiency, LIPD deficiency, Hyperlipoproteinemia TypeIA, Familial chylomicronemia, Familial chylomicronemia syndrome, Familial chylomicronemia syndrome (FCS), FCS, Recurrent hypertriglyceridemia-induced APIP (HTG-APIP), Acute pancreatitis in pregnancy (APIP)

Gene_locus : human-LPL

Mutation : 168 mutations Q30X_human-LPL C310R_human-LPL 2.1kbdel_human-LPL 2kbdup_human-LPL 3bpdelInt1_human-LPL 6kbdel_human-LPL A97fsX49_human-LPL A98T_human-LPL A185T_human-LPL A203T_human-LPL A248fsX3_human-LPL A288T_human-LPL A361T_human-LPL c-39T>C_human-LPL c-93T>G_human-LPL C243S_human-LPL C266W_human-LPL C266X_human-LPL C291X_human-LPL C305R_human-LPL C310Y_human-LPL C445Y_human-LPL D36N_human-LPL D183G_human-LPL D183H_human-LPL D183N_human-LPL D201V_human-LPL D207E_human-LPL D231E_human-LPL D277N_human-LPL delTot_human-LPL E62RfsX27_human-LPL E190G_human-LPL E269K_human-LPL E282X_human-LPL E396V_human-LPL E437K_human-LPL E437V_human-LPL E448K_human-LPL F297L_human-LPL G81D_human-LPL G132R_human-LPL G166S_human-LPL G169E_human-LPL G181S_human-LPL G181V_human-LPL G186E_human-LPL G215E_human-LPL G215R_human-LPL G222E_human-LPL G256TfsX26_human-LPL G436R_human-LPL H71Q_human-LPL H163R_human-LPL H183Q_human-LPL H210D_human-LPL I221T_human-LPL I232S_human-LPL I252T_human-LPL IVS1+1G>C_human-LPL IVS2+1G>A_human-LPL IVS2-1G>A_human-LPL IVS3_human-LPL IVS6_human-LPL IVS8_495T>G_human-LPL K225R_human-LPL K434N_human-LPL L279R_human-LPL L279V_human-LPL L279VfsX3_human-LPL L303F_human-LPL L313P_human-LPL L330P_human-LPL L392V_human-LPL M328R_human-LPL M328T_human-LPL M404R_human-LPL N70S_human-LPL N147fs_human-LPL N281MfsX23_human-LPL N318S_human-LPL P184R_human-LPL P234L_human-LPL Q133X_human-LPL Q262X_human-LPL Q267H_human-LPL R102S_human-LPL R214I_human-LPL R270C_human-LPL R270H_human-LPL S199C_human-LPL S199fsX7_human-LPL S220R_human-LPL S271T_human-LPL S278C_human-LPL S286G_human-LPL S286R_human-LPL S325R_human-LPL S350C_human-LPL S365F_human-LPL S423_P424del_human-LPL S474X_human-LPL T128A_human-LPL T379A_human-LPL V96fs_human-LPL V96L_human-LPL V208I_human-LPL V227A_human-LPL V370M_human-LPL V442G_human-LPL W14X_human-LPL W91X_human-LPL W113G_human-LPL W113R_human-LPL W409X_human-LPL W421X_human-LPL Y88X_human-LPL Y100X_human-LPL Y289H_human-LPL Y315X_human-LPL Y329X_human-LPL IVS1-1G>C_human-LPL IVS1-1G>A_human-LPL H268Y_human-LPL R270G_human-LPL A97FfsX52_human-LPL W420X_human-LPL V340GfsX13_human-LPL M328I_human-LPL G237D_human-LPL G218VfsX34_human-LPL R197L_human-LPL I109T_human-LPL H229R_human-LPL R197H_human-LPL E143D_human-LPL C302S_human-LPL IVS1+1G>T+2T>G_human-LPL N147TfsX24_human-LPL R333H_human-LPL V64M_human-LPL A427T_human-LPL S196C_human-LPL R116Q_human-LPL c.88+2T>G\/c.56C>G_human-LPL G351R_human-LPL P241S_human-LPL D308GfsX3_human-LPL R432T_human-LPL H210L_human-LPL C291Y_human-LPL H80R_human-LPL N318IfsX304_human-LPL Y158D_human-LPL R116P_human-LPL H154R_human-LPL M1I_human-LPL A26KfsX13_human-LPL A12GfsX29_human-LPL S63F_human-LPL IVS7+1G>A_human-LPL A98V_human-LPL T180A_human-LPL P337R_human-LPL R309AfsX8_human-LPL K307AfsX6_human-LPL N308GfsX4_human-LPL V111L_human-LPL

OMIM : 238600 , 246650 , 609708

Comment
(from OMIM) Holt et al. (1939) first reported the familial occurrence of this syndrome. Boggs et al. (1957) described 3 affected sibs from a first-cousin mating. Massive hyperchylomicronemia occurs when the patient is on a normal diet and disappears completely in a few days on fat-free feeding. On a normal diet alpha and beta lipoproteins are low. A defect in removal of chylomicrons(fat induction) and of other triglyceride-rich lipoproteins (carbohydrate induction) is present. Decreased plasma postheparin lipolytic activity (PHLA) is demonstrated. The full-blown disease, manifested by attacks of abdominal pain, hepatosplenomegaly, eruptive xanthomas, and lactescence of the plasma, is a recessive. Heterozygotes may show slight hyperlipemia and reduced PHLA. Havel and Gordon(1960) first recognized deficiency of lipoprotein lipase (triacylglycerol acylhydrolase\; EC 3.1.1.3 ) as the basic defect in type I hyperlipoproteinemia. The type I hyperlipoproteinemia phenotype can also result from deficiency of the activator of lipoprotein lipase, apolipoprotein C-II (Breckenridge et al., 1978) and also from mutation of deletions of glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1)LPL is bound by glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) and transported into the capillary, where it acts on chylomicrons and very-low-density lipoproteins (VLDLs) to hydrolyze packaged triglycerides and release FFAs

References (268)

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Abstract :
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Gene_locus related to this paper: human-LPL

Title : Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene - Kim_2024_BMC.Endocr.Disord_24_47
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Gene_locus related to this paper: human-LPL

Title : Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population - Li_2024_Arch.Endocrinol.Metab_68_e230195
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Gene_locus related to this paper: human-LPL

Title : The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function - Hu_2023_Lipids.Health.Dis_22_119
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Gene_locus related to this paper: human-LPL

Title : Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial - Rosenson_2023_Nat.Med__
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Gene_locus related to this paper: human-LPL

Title : High producer variant of lipoprotein lipase may protect from hepatocellular carcinoma in alcohol-associated cirrhosis - Schmalz_2023_JHEP.Rep_5_100684
Author(s) : Schmalz F , Fischer J , Innes H , Buch S , Moller C , Matz-Soja M , von Schonfels W , Kramer B , Langhans B , Kluners A , Soyka M , Stickel F , Nattermann J , Strassburg CP , Berg T , Lutz P , Nischalke HD
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Gene_locus related to this paper: human-LPL

Title : Long-Term Nutritional Counseling for a Patient with Lipoprotein Lipase Deficiency - Torii_2023_J.Atheroscler.Thromb__
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Gene_locus related to this paper: human-LPL

Title : Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date - Zhang_2023_Lipids.Health.Dis_22_128
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PubMedSearch : Zhang_2023_Lipids.Health.Dis_22_128
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Gene_locus related to this paper: human-LPL

Title : Post-prandial analysis of fluctuations in the platelet count and platelet function in patients with the familial chylomicronemia syndrome - Larouche_2023_Orphanet.J.Rare.Dis_18_167
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PubMedSearch : Larouche_2023_Orphanet.J.Rare.Dis_18_167
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Gene_locus related to this paper: human-LPL

Title : Preclinical Development and Characterization of Novel Adeno-Associated Viral Vectors for the Treatment of Lipoprotein Lipase Deficiency - Mehta_2023_Hum.Gene.Ther__
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PubMedSearch : Mehta_2023_Hum.Gene.Ther__
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Gene_locus related to this paper: human-LPL

Title : The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants - Shestopalov_2023_J.Obes_2023_7392513
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Abstract :
PubMedSearch : Shestopalov_2023_J.Obes_2023_7392513
PubMedID: 37901192
Gene_locus related to this paper: human-LPL

Title : Lipoprotein Lipase\/Apolipoprotein Cll Gene Polymorphism in Kurdish Patients With Severe Hypertriglyceridemia - Hussein_2023_Cureus_15_e46829
Author(s) : Hussein K , Salih S , Al-Timimi D
Ref : Cureus , 15 :e46829 , 2023
Abstract :
PubMedSearch : Hussein_2023_Cureus_15_e46829
PubMedID: 37954769
Gene_locus related to this paper: human-LPL

Title : Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis - Wu_2023_Kidney.Int.Rep_8_2428
Author(s) : Wu H , Xu H , Lei S , Yang Z , Yang S , Du J , Zhou Y , Liu Y , Yang Y , Hu Z
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Abstract :
PubMedSearch : Wu_2023_Kidney.Int.Rep_8_2428
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Gene_locus related to this paper: human-LPL

Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__
Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W
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PubMedSearch : Xia_2023_J.Clin.Lipidol__
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Gene_locus related to this paper: human-LPL

Title : Severe hypertriglyceridemia: Existing and emerging therapies - Malick_2023_Pharmacol.Ther__108544
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Title : Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency - Li_2022_Front.Genet_13_831133
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PubMedSearch : Li_2022_Front.Genet_13_831133
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Gene_locus related to this paper: human-LPL

Title : Maternally inherited diabetes and deafness coexists with lipoprotein lipase gene mutation-associated severe hyperlipidemia that was resistant to fenofibrate and atorvastatin, but sensitive to bezafibrate: A case report - Zhang_2022_J.Diabetes.Investig_13_397
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Gene_locus related to this paper: human-LPL

Title : Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia - Wang_2022_Front.Endocrinol.(Lausanne)_13_874608
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Gene_locus related to this paper: human-LPL

Title : Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report - Han_2022_Medicine.(Baltimore)_101_e29689
Author(s) : Han L , Qiang G , Yang L , Kou R , Li Q , Xin M , Liu R , Zhang Z
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Abstract :
PubMedSearch : Han_2022_Medicine.(Baltimore)_101_e29689
PubMedID: 35960041
Gene_locus related to this paper: human-LPL

Title : Homozygous familial lipoprotein lipase deficiency without obvious coronary artery stenosis - Minamizuka_2022_Clin.Biochem__
Author(s) : Minamizuka T , Kobayashi J , Tada H , Koshizaka M , Maezawa Y , Yokote K
Ref : Clinical Biochemistry , : , 2022
Abstract :
PubMedSearch : Minamizuka_2022_Clin.Biochem__
PubMedID: 35820489
Gene_locus related to this paper: human-LPL

Title : Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report - Shi_2022_Transl.Pediatr_11_1717
Author(s) : Shi H , Wang Z
Ref : Transl Pediatr , 11 :1717 , 2022
Abstract :
PubMedSearch : Shi_2022_Transl.Pediatr_11_1717
PubMedID: 36345447
Gene_locus related to this paper: human-LPL

Title : Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection - Thaneefa_2022_Clin.Chim.Acta__
Author(s) : Thowfeek Zeenath Thaneefa M , Amarakoon G , Mendis D , Jasinge E , Hooper AJ , Burnett JR
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PubMedSearch : Thaneefa_2022_Clin.Chim.Acta__
PubMedID: 35085586
Gene_locus related to this paper: human-LPL

Title : Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: a case report and review of literature - Huang_2022_Clin.Chim.Acta__
Author(s) : Huang Y , Qin Y , Liao L , Lin F
Ref : Clinica Chimica Acta , : , 2022
Abstract :
PubMedSearch : Huang_2022_Clin.Chim.Acta__
PubMedID: 36252692
Gene_locus related to this paper: human-LPL

Title : A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene - Li_2021_Stem.Cell.Res_53_102313
Author(s) : Li Z , Zhang X , Li X , Yang Y , Xin H , Yang X , Liu N , Gai Z , Liu Y
Ref : Stem Cell Res , 53 :102313 , 2021
Abstract :
PubMedSearch : Li_2021_Stem.Cell.Res_53_102313
PubMedID: 34087978
Gene_locus related to this paper: human-LPL

Title : Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases - Wu_2021_BMC.Pediatr_21_414
Author(s) : Wu YQ , Hu YY , Li GN
Ref : BMC Pediatr , 21 :414 , 2021
Abstract :
PubMedSearch : Wu_2021_BMC.Pediatr_21_414
PubMedID: 34544385
Gene_locus related to this paper: human-LPL

Title : Two novel Mutations of the LPL Gene in two Chinese family cases with Familial Chylomicronemia Syndrome - Wang_2021_Clin.Chim.Acta__
Author(s) : Wang M , Zhou Y , He X , Deng C , Liu X , Li J , Zhou L , Li Y , Zhang Y , Liu H , Li L
Ref : Clinica Chimica Acta , : , 2021
Abstract :
PubMedSearch : Wang_2021_Clin.Chim.Acta__
PubMedID: 34324844
Gene_locus related to this paper: human-LPL

Title : Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing - Liu_2020_Front.Genet_11_741
Author(s) : Liu Y , Lan Z , Zhao F , Zhang S , Zhang W
Ref : Front Genet , 11 :741 , 2020
Abstract :
PubMedSearch : Liu_2020_Front.Genet_11_741
PubMedID: 32765589
Gene_locus related to this paper: human-LPL

Title : Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy - Shi_2020_Mol.Genet.Genomic.Med__e1048
Author(s) : Shi XL , Yang Q , Pu N , Li XY , Chen WW , Zhou J , Li G , Tong ZH , Ferec C , Cooper DN , Chen JM , Li WQ
Ref : Mol Genet Genomic Med , :e1048 , 2020
Abstract :
PubMedSearch : Shi_2020_Mol.Genet.Genomic.Med__e1048
PubMedID: 31962008
Gene_locus related to this paper: human-LPL

Title : Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment - Gallo_2020_Curr.Atheroscler.Rep_22_63
Author(s) : Gallo A , Beliard S , D'Erasmo L , Bruckert E
Ref : Curr Atheroscler Rep , 22 :63 , 2020
Abstract :
PubMedSearch : Gallo_2020_Curr.Atheroscler.Rep_22_63
PubMedID: 32852651
Gene_locus related to this paper: human-LPL

Title : Corrigendum to Gender-related relation between metabolic syndrome and S447X and HindIII polymorphisms of lipoprotein lipase gene in northern Iran [Gene 706 (2019) 13-18] -
Author(s) : Alinaghian N , Abdollahi E , Torab M , Khodaparast M , Zamani F , Rahimi-Moghaddam P
Ref : Gene , 725 :144152 , 2020
PubMedID: 31614191
Gene_locus related to this paper: human-LPL

Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163
Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P
Ref : Clinica Chimica Acta , 500 :163 , 2020
Abstract :
PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163
PubMedID: 31669931
Gene_locus related to this paper: human-LPL

Title : Deciphering the role of V200A and N291S mutations leading to LPL deficiency - Botta_2019_Atherosclerosis_282_45
Author(s) : Botta M , Maurer E , Ruscica M , Romeo S , Stulnig TM , Pingitore P
Ref : Atherosclerosis , 282 :45 , 2019
Abstract :
PubMedSearch : Botta_2019_Atherosclerosis_282_45
PubMedID: 30685441
Gene_locus related to this paper: human-LPL

Title : The association of the S447X mutation in LPL with Coronary artery disease: a meta-analysis - Sun_2019_Minerva.Cardioangiol_67_246
Author(s) : Sun W , Wu Y , Wen Y , Guo M , Zhang H
Ref : Minerva Cardioangiol , 67 :246 , 2019
Abstract :
PubMedSearch : Sun_2019_Minerva.Cardioangiol_67_246
PubMedID: 29687697
Gene_locus related to this paper: human-LPL

Title : Rare LPL gene missense mutation in an infant with hypertriglyceridemia - Qin_2018_J.Clin.Lab.Anal_32_e22414
Author(s) : Qin YY , Wei AQ , Shan QW , Xian XY , Wu YY , Liao L , Yan J , Lai ZF , Lin FQ
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Abstract :
PubMedSearch : Qin_2018_J.Clin.Lab.Anal_32_e22414
PubMedID: 29479812
Gene_locus related to this paper: human-LPL

Title : The HindIII and PvuII polymorphisms of lipoprotein lipase (LPL) gene reduce the risk of ischemic stroke (IS): A meta-analysis - Cao_2018_Medicine.(Baltimore)_97_e0483
Author(s) : Cao L , Li Q , Chen X
Ref : Medicine (Baltimore) , 97 :e0483 , 2018
Abstract :
PubMedSearch : Cao_2018_Medicine.(Baltimore)_97_e0483
PubMedID: 29718838
Gene_locus related to this paper: human-LPL

Title : Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis - Li_2018_Lipids.Health.Dis_17_144
Author(s) : Li X , Yang Q , Shi X , Chen W , Pu N , Li W , Li J
Ref : Lipids Health Dis , 17 :144 , 2018
Abstract :
PubMedSearch : Li_2018_Lipids.Health.Dis_17_144
PubMedID: 29921298
Gene_locus related to this paper: human-LPL

Title : Building a better understanding of the burden of disease in familial chylomicronemia syndrome -
Author(s) : Ahmad Z , Halter R , Stevenson M
Ref : Expert Rev Clin Pharmacol , 10 :1 , 2017
PubMedID: 27771961
Gene_locus related to this paper: human-LPL

Title : The heterozygous N291S mutation in the lipoprotein lipase gene impairs whole-body insulin sensitivity and affects a distinct set of plasma metabolites in humans - Berg_2017_J.Clin.Lipidol_11_515
Author(s) : Berg SM , Havelund J , Hasler-Sheetal H , Kruse V , Pedersen AJT , Hansen AB , Nybo M , Beck-Nielsen H , Hojlund K , Faergeman NJ
Ref : J Clin Lipidol , 11 :515 , 2017
Abstract :
PubMedSearch : Berg_2017_J.Clin.Lipidol_11_515
PubMedID: 28502509
Gene_locus related to this paper: human-LPL

Title : Eruptive Xanthomas in Lipoprotein Lipase Deficiency -
Author(s) : Buonuomo PS , Malamisura M , Macchiaiolo M , Rana I , Gonfiantini MV , Mastrogiorgio G , Bartuli A
Ref : J Pediatr , 187 :330 , 2017
PubMedID: 28529016
Gene_locus related to this paper: human-LPL

Title : The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study - Davidson_2017_Expert.Rev.Cardiovasc.Ther_15_415
Author(s) : Davidson M , Stevenson M , Hsieh A , Ahmad Z , Crowson C , Witztum JL
Ref : Expert Rev Cardiovasc Ther , 15 :415 , 2017
Abstract :
PubMedSearch : Davidson_2017_Expert.Rev.Cardiovasc.Ther_15_415
PubMedID: 28338353
Gene_locus related to this paper: human-LPL

Title : Biochemical Analysis of the Lipoprotein Lipase Truncation Variant, LPLS447X, Reveals Increased Lipoprotein Uptake - Hayne_2017_Biochemistry_56_525
Author(s) : Hayne CK , Lafferty MJ , Eglinger BJ , Kane JP , Neher SB
Ref : Biochemistry , 56 :525 , 2017
Abstract :
PubMedSearch : Hayne_2017_Biochemistry_56_525
PubMedID: 27984852
Gene_locus related to this paper: human-LPL

Title : Lipemia retinalis in 1-month-old infant - Jain_2017_Oman.J.Ophthalmol_10_50
Author(s) : Jain NC , Vanteri J , Shah PK , Narendran V
Ref : Oman J Ophthalmol , 10 :50 , 2017
Abstract :
PubMedSearch : Jain_2017_Oman.J.Ophthalmol_10_50
PubMedID: 28298868
Gene_locus related to this paper: human-LPL

Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329
Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S
Ref : J Clin Lipidol , 11 :1329 , 2017
Abstract :
PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329
PubMedID: 28951076
Gene_locus related to this paper: human-LIPC , human-LPL

Title : Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R\/E396V) in a Chinese family associated with recurrent acute pancreatitis - Lun_2017_Oncotarget_8_47741
Author(s) : Lun Y , Sun X , Wang P , Chi J , Hou X , Wang Y
Ref : Oncotarget , 8 :47741 , 2017
Abstract :
PubMedSearch : Lun_2017_Oncotarget_8_47741
PubMedID: 28548960
Gene_locus related to this paper: human-LPL

Title : The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency - Steinhagen-Thiessen_2017_Atherosclerosis_262_146
Author(s) : Steinhagen-Thiessen E , Stroes E , Soran H , Johnson C , Moulin P , Iotti G , Zibellini M , Ossenkoppele B , Dippel M , Averna MR
Ref : Atherosclerosis , 262 :146 , 2017
Abstract :
PubMedSearch : Steinhagen-Thiessen_2017_Atherosclerosis_262_146
PubMedID: 28284702

Title : Diagnostic algorithm for familial chylomicronemia syndrome - Stroes_2017_Atheroscler.Suppl_23_1
Author(s) : Stroes E , Moulin P , Parhofer KG , Rebours V , Lohr JM , Averna M
Ref : Atheroscler Suppl , 23 :1 , 2017
Abstract :
PubMedSearch : Stroes_2017_Atheroscler.Suppl_23_1
PubMedID: 27998715

Title : Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis -
Author(s) : Vidanapathirana DM , Rodrigo T , Waidyanatha S , Jasinge E , Hooper AJ , Burnett JR
Ref : Glob Pediatr Health , 4 :2333794X17715839 , 2017
PubMedID: 28695157
Gene_locus related to this paper: human-LPL

Title : Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses - Murase_2017_J.Clin.Lipidol_11_1383
Author(s) : Murase T , Okubo M , Ebara T , Mori Y
Ref : J Clin Lipidol , 11 :1383 , 2017
Abstract :
PubMedSearch : Murase_2017_J.Clin.Lipidol_11_1383
PubMedID: 28958672
Gene_locus related to this paper: human-LPL

Title : Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis - Gaudet_2016_Hum.Gene.Ther_27_916
Author(s) : Gaudet D , Stroes ES , Methot J , Brisson D , Tremblay K , Bernelot Moens SJ , Iotti G , Rastelletti I , Ardigo D , Corzo D , Meyer C , Andersen M , Ruszniewski P , Deakin M , Bruno MJ
Ref : Hum Gene Therapy , 27 :916 , 2016
Abstract :
PubMedSearch : Gaudet_2016_Hum.Gene.Ther_27_916
PubMedID: 27412455
Gene_locus related to this paper: human-LPL

Title : Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome - Zhang_2016_Lipids.Health.Dis_15_88
Author(s) : Zhang Y , Zhou J , Zheng W , Lan Z , Huang Z , Yang Q , Liu C , Gao R
Ref : Lipids Health Dis , 15 :88 , 2016
Abstract :
PubMedSearch : Zhang_2016_Lipids.Health.Dis_15_88
PubMedID: 27153815
Gene_locus related to this paper: human-LPL

Title : Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency - Rodrigues_2016_J.Clin.Lipidol_10_394
Author(s) : Rodrigues R , Artieda M , Tejedor D , Martinez A , Konstantinova P , Petry H , Meyer C , Corzo D , Sundgreen C , Klor HU , Gouni-Berthold I , Westphal S , Steinhagen-Thiessen E , Julius U , Winkler K , Stroes E , Vogt A , Hardt P , Prophet H , Otte B , Nordestgaard BG , Deeb SS , Brunzell JD
Ref : J Clin Lipidol , 10 :394 , 2016
Abstract :
PubMedSearch : Rodrigues_2016_J.Clin.Lipidol_10_394
PubMedID: 27055971
Gene_locus related to this paper: human-LPL

Title : Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach - Khovidhunkit_2016_J.Clin.Lipidol_10_505
Author(s) : Khovidhunkit W , Charoen S , Kiateprungvej A , Chartyingcharoen P , Muanpetch S , Plengpanich W
Ref : J Clin Lipidol , 10 :505 , 2016
Abstract :
PubMedSearch : Khovidhunkit_2016_J.Clin.Lipidol_10_505
PubMedID: 27206937
Gene_locus related to this paper: human-LPL

Title : Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants - Kassner_2015_Eur.J.Hum.Genet_23_1259
Author(s) : Kassner U , Salewsky B , Wuhle-Demuth M , Szijarto IA , Grenkowitz T , Binner P , Marz W , Steinhagen-Thiessen E , Demuth I
Ref : Eur J Hum Genet , 23 :1259 , 2015
Abstract :
PubMedSearch : Kassner_2015_Eur.J.Hum.Genet_23_1259
PubMedID: 25585702
Gene_locus related to this paper: human-LPL

Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79
Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S
Ref : Atherosclerosis , 241 :79 , 2015
Abstract :
PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79
PubMedID: 25966443
Gene_locus related to this paper: human-LPL

Title : Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene - Soto_2015_Lipids.Health.Dis_14_102
Author(s) : Soto AG , McIntyre A , Agrawal S , Bialo SR , Hegele RA , Boney CM
Ref : Lipids Health Dis , 14 :102 , 2015
Abstract :
PubMedSearch : Soto_2015_Lipids.Health.Dis_14_102
PubMedID: 26337181
Gene_locus related to this paper: human-LPL

Title : Genotype-phenotype relationships in patients with type I hyperlipoproteinemia - Chokshi_2014_J.Clin.Lipidol_8_287
Author(s) : Chokshi N , Blumenschein SD , Ahmad Z , Garg A
Ref : J Clin Lipidol , 8 :287 , 2014
Abstract :
PubMedSearch : Chokshi_2014_J.Clin.Lipidol_8_287
PubMedID: 24793350
Gene_locus related to this paper: human-LPL

Title : A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment - Stefanutti_2013_Atheroscler.Suppl_14_73
Author(s) : Stefanutti C , Gozzer M , Pisciotta L , D'Eufemia P , Bosco G , Morozzi C , Papadia F , Shafii M , Di Giacomo S , Bertolini S
Ref : Atheroscler Suppl , 14 :73 , 2013
Abstract :
PubMedSearch : Stefanutti_2013_Atheroscler.Suppl_14_73
PubMedID: 23357145
Gene_locus related to this paper: human-LPL

Title : Meta-based association of the lipoprotein lipase gene S447X variant with hypertension and blood pressure variation - Niu_2011_J.Hum.Hypertens_25_383
Author(s) : Niu WQ , Qi Y
Ref : J Hum Hypertens , 25 :383 , 2011
Abstract :
PubMedSearch : Niu_2011_J.Hum.Hypertens_25_383
PubMedID: 20596061

Title : Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1 - Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980
Author(s) : Voss CV , Davies BS , Tat S , Gin P , Fong LG , Pelletier C , Mottler CD , Bensadoun A , Beigneux AP , Young SG
Ref : Proc Natl Acad Sci U S A , 108 :7980 , 2011
Abstract :
PubMedSearch : Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980
PubMedID: 21518912
Gene_locus related to this paper: human-LPL

Title : Association of lipase lipoprotein polymorphisms with high-density lipoprotein and triglycerides in elderly men - Araujo_2010_Genet.Mol.Res_9_89
Author(s) : Araujo LM , Cendoroglo MS , Gigek CO , Chen ES , Smith MD
Ref : Genet Mol Res , 9 :89 , 2010
Abstract :
PubMedSearch : Araujo_2010_Genet.Mol.Res_9_89
PubMedID: 20108206

Title : Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels - Paglialunga_2009_J.Lipid.Res_50_1109
Author(s) : Paglialunga S , Julien P , Tahiri Y , Cadelis F , Bergeron J , Gaudet D , Cianflone K
Ref : J Lipid Res , 50 :1109 , 2009
Abstract :
PubMedSearch : Paglialunga_2009_J.Lipid.Res_50_1109
PubMedID: 19237736
Gene_locus related to this paper: human-LPL

Title : Genetic polymorphism of S447X lipoprotein lipase (LPL) and the susceptibility to hypertension - Salah_2009_J.Crit.Care_24_e11
Author(s) : Salah A , Khan M , Esmail N , Habibullah S , Al Lahham Y
Ref : J Crit Care , 24 :e11 , 2009
Abstract :
PubMedSearch : Salah_2009_J.Crit.Care_24_e11
PubMedID: 19664517

Title : Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis - Chang_2009_J.Clin.Gastroenterol_43_591
Author(s) : Chang YT , Chang MC , Su TC , Liang PC , Su YN , Kuo CH , Wei SC , Wong JM
Ref : J Clin Gastroenterol , 43 :591 , 2009
Abstract :
PubMedSearch : Chang_2009_J.Clin.Gastroenterol_43_591
PubMedID: 19034041

Title : Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency - Burnett_2009_Curr.Opin.Mol.Ther_11_681
Author(s) : Burnett JR , Hooper AJ
Ref : Curr Opin Mol Ther , 11 :681 , 2009
Abstract :
PubMedSearch : Burnett_2009_Curr.Opin.Mol.Ther_11_681
PubMedID: 20072945

Title : Association of lipoprotein lipase D9N polymorphism with myocardial infarction in type 2 diabetes: the genetics, outcomes, and lipids in type 2 diabetes (GOLD) study - Izar_2009_Atherosclerosis_204_165
Author(s) : Izar MC , Helfenstein T , Ihara SS , Relvas WG , Santos AO , Fischer SC , Pinto LE , Lopes IE , Pomaro DR , Fonseca MI , Bodanese LC , Moriguchi EH , Saraiva JF , Introcaso L , Souza AD , Scartezini M , Torres KP , Zagury L , Jardim PC , Costa EA , Tacito LH , Forti A , Magalhaes ME , Chacra AR , Bertolami MC , Loures-Vale AA , Barros MA , Xavier HT , Lyra R , Argamanijan D , Guimaraes A , Novazzi JP , Kasinski N , Afiune A , Martinez TL , Santos RD , Nicolau JC , Cesar LA , Povoa RM , Carvalho AC , Han SW , Fonseca FA
Ref : Atherosclerosis , 204 :165 , 2009
Abstract :
PubMedSearch : Izar_2009_Atherosclerosis_204_165
PubMedID: 18823627
Gene_locus related to this paper: human-LPL

Title : A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis - Ebara_2007_Clin.Chim.Acta_386_100
Author(s) : Ebara T , Endo Y , Yoshiike S , Tsuji M , Taguchi S , Murase T , Okubo M
Ref : Clinica Chimica Acta , 386 :100 , 2007
Abstract :
PubMedSearch : Ebara_2007_Clin.Chim.Acta_386_100
PubMedID: 17854791
Gene_locus related to this paper: human-LPL

Title : A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis - Yu_2006_Biochem.Biophys.Res.Commun_341_82
Author(s) : Yu XH , Zhao TQ , Wang L , Liu ZP , Zhang CM , Chen R , Li L , Liu G , Hu WC
Ref : Biochemical & Biophysical Research Communications , 341 :82 , 2006
Abstract :
PubMedSearch : Yu_2006_Biochem.Biophys.Res.Commun_341_82
PubMedID: 16431216
Gene_locus related to this paper: human-LPL

Title : Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome - Truninger_2006_Pancreas_32_215
Author(s) : Truninger K , Schmid PA , Hoffmann MM , Bertschinger P , Ammann RW
Ref : Pancreas , 32 :215 , 2006
Abstract :
PubMedSearch : Truninger_2006_Pancreas_32_215
PubMedID: 16552344
Gene_locus related to this paper: human-LPL

Title : Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis - Kawashiri_2005_J.Clin.Endocrinol.Metab_90_6541
Author(s) : Kawashiri MA , Higashikata T , Mizuno M , Takata M , Katsuda S , Miwa K , Nozue T , Nohara A , Inazu A , Kobayashi J , Koizumi J , Mabuchi H
Ref : J Clinical Endocrinology Metab , 90 :6541 , 2005
Abstract :
PubMedSearch : Kawashiri_2005_J.Clin.Endocrinol.Metab_90_6541
PubMedID: 16174715
Gene_locus related to this paper: human-LPL

Title : Association between lipoprotein lipase (LPL) gene and blood lipids: a common variant for a common trait? - Morabia_2003_Genet.Epidemiol_24_309
Author(s) : Morabia A , Cayanis E , Costanza MC , Ross BM , Bernstein MS , Flaherty MS , Alvin GB , Das K , Morris MA , Penchaszadeh GK , Zhang P , Gilliam TC
Ref : Genet Epidemiol , 24 :309 , 2003
Abstract :
PubMedSearch : Morabia_2003_Genet.Epidemiol_24_309
PubMedID: 12687649

Title : Effect of obesity on HDL and LDL particle sizes in carriers of the null P207L or defective D9N mutation in the lipoprotein lipase gene: the Quebec LipD Study - Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631
Author(s) : Ruel IL , Gaudet D , Perron P , Bergeron J , Julien P , Lamarche B
Ref : Int J Obes Relat Metab Disord , 27 :631 , 2003
Abstract :
PubMedSearch : Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631
PubMedID: 12704407

Title : Lipoprotein lipase gene polymorphisms in Croatian patients with coronary artery disease - Ferencak_2003_Clin.Chem.Lab.Med_41_541
Author(s) : Ferencak G , Pasalic D , Grskovic B , Cheng S , Fijal B , Sesto M , Skodlar J , Rukavina AS
Ref : Clinical Chemistry & Laboratory Medicine , 41 :541 , 2003
Abstract :
PubMedSearch : Ferencak_2003_Clin.Chem.Lab.Med_41_541
PubMedID: 12747600

Title : The lipoprotein lipase gene HindIII polymorphism is associated with lipid levels in early-onset type 2 diabetic patients - Ma_2003_Metabolism_52_338
Author(s) : Ma YQ , Thomas GN , Ng MC , Critchley JA , Chan JC , Tomlinson B
Ref : Metabolism , 52 :338 , 2003
Abstract :
PubMedSearch : Ma_2003_Metabolism_52_338
PubMedID: 12647273

Title : Cholesterol ester transfer protein, apolipoprotein E and lipoprotein lipase genotypes in patients with coronary artery disease in the Turkish population - Isbir_2003_Clin.Genet_64_228
Author(s) : Isbir T , Yilmaz H , Agachan B , Karaali ZE
Ref : Clin Genet , 64 :228 , 2003
Abstract :
PubMedSearch : Isbir_2003_Clin.Genet_64_228
PubMedID: 12919138

Title : Genetics of the lipoprotein lipase gene and hypertriglyceridaemia - McDonnell_2003_Br.J.Biomed.Sci_60_84
Author(s) : McDonnell MG , Young IS , Nicholls DP , Archbold GP , Graham CA
Ref : Br J Biomed Sci , 60 :84 , 2003
Abstract :
PubMedSearch : McDonnell_2003_Br.J.Biomed.Sci_60_84
PubMedID: 12866915

Title : Postprandial triglyceride levels in familial combined hyperlipidemia. The role of apolipoprotein E and lipoprotein lipase polymorphisms - Reiber_2003_J.Nutr.Biochem_14_394
Author(s) : Reiber I , Mezo I , Kalina A , Palos G , Romics L , Csaszar A
Ref : J Nutr Biochem , 14 :394 , 2003
Abstract :
PubMedSearch : Reiber_2003_J.Nutr.Biochem_14_394
PubMedID: 12915220

Title : Interaction effect of Serine447Stop variant of the lipoprotein lipase gene and C-514T variant of the hepatic lipase gene on serum triglyceride levels in young adults: the Bogalusa Heart Study - Xin_2003_Metabolism_52_1337
Author(s) : Xin X , Srinivasan SR , Chen W , Boerwinkle E , Berenson GS
Ref : Metabolism , 52 :1337 , 2003
Abstract :
PubMedSearch : Xin_2003_Metabolism_52_1337
PubMedID: 14564687

Title : Influence of common variants in the CETP, LPL, HL and APO E genes on LDL heterogeneity in healthy, middle-aged men - Skoglund-Andersson_2003_Atherosclerosis_167_311
Author(s) : Skoglund-Andersson C , Ehrenborg E , Fisher RM , Olivecrona G , Hamsten A , Karpe F
Ref : Atherosclerosis , 167 :311 , 2003
Abstract :
PubMedSearch : Skoglund-Andersson_2003_Atherosclerosis_167_311
PubMedID: 12818414

Title : Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population: interaction with tobacco smoking and the APOE locus - Corella_2002_J.Lipid.Res_43_416
Author(s) : Corella D , Guillen M , Saiz C , Portoles O , Sabater A , Folch J , Ordovas JM
Ref : J Lipid Res , 43 :416 , 2002
Abstract :
PubMedSearch : Corella_2002_J.Lipid.Res_43_416
PubMedID: 11893778

Title : Lipoprotein lipase polymorphisms and responses to long-term overfeeding - Ukkola_2002_J.Intern.Med_251_429
Author(s) : Ukkola O , Tremblay A , Bouchard C
Ref : J Intern Med , 251 :429 , 2002
Abstract :
PubMedSearch : Ukkola_2002_J.Intern.Med_251_429
PubMedID: 11982743

Title : Insulin sensitivity is impaired in heterozygous carriers of lipoprotein lipase deficiency - Holzl_2002_Diabetologia_45_378
Author(s) : Holzl B , Iglseder B , Sandhofer A , Malaimare L , Lang J , Paulweber B , Sandhofer F
Ref : Diabetologia , 45 :378 , 2002
Abstract :
PubMedSearch : Holzl_2002_Diabetologia_45_378
PubMedID: 11914743

Title : Relationship between a novel polymorphism of hepatic lipase gene and coronary artery disease - Su_2002_Sheng.Wu.Hua.Xue.Yu.Sheng.Wu.Wu.Li.Xue.Bao.(Shanghai)_34_780
Author(s) : Su ZG , Zhang SZ , Hou YP , Zhang L , Huang DJ , Liao LC , Xiao CY
Ref : Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai) , 34 :780 , 2002
Abstract :
PubMedSearch : Su_2002_Sheng.Wu.Hua.Xue.Yu.Sheng.Wu.Wu.Li.Xue.Bao.(Shanghai)_34_780
PubMedID: 12417924

Title : Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene - Peterson_2002_J.Lipid.Res_43_398
Author(s) : Peterson J , Ayyobi AF , Ma Y , Henderson H , Reina M , Deeb SS , Santamarina-Fojo S , Hayden MR , Brunzell JD
Ref : J Lipid Res , 43 :398 , 2002
Abstract :
PubMedSearch : Peterson_2002_J.Lipid.Res_43_398
PubMedID: 11893776
Gene_locus related to this paper: human-LPL

Title : [HindIII DNA-polymorphism of lipoprotein lipase gene in elderly patients with ischemic heart disease] - Malygina_2002_Ter.Arkh_74_64
Author(s) : Malygina NA , Kostomarova IV , Deriagin GV , Serova LD
Ref : Ter Arkh , 74 :64 , 2002
Abstract :
PubMedSearch : Malygina_2002_Ter.Arkh_74_64
PubMedID: 11899831

Title : Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients - Brisson_2002_Pharmacogenet_12_313
Author(s) : Brisson D , Ledoux K , Bosse Y , St-Pierre J , Julien P , Perron P , Hudson TJ , Vohl MC , Gaudet D
Ref : Pharmacogenetics , 12 :313 , 2002
Abstract :
PubMedSearch : Brisson_2002_Pharmacogenet_12_313
PubMedID: 12042669

Title : Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia - Campagna_2002_Metabolism_51_1298
Author(s) : Campagna F , Montali A , Baroni MG , Maria AT , Ricci G , Antonini R , Verna R , Arca M
Ref : Metabolism , 51 :1298 , 2002
Abstract :
PubMedSearch : Campagna_2002_Metabolism_51_1298
PubMedID: 12370850

Title : Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men - Talmud_2002_Ann.Hum.Genet_66_111
Author(s) : Talmud PJ , Hawe E , Robertson K , Miller GJ , Miller NE , Humphries SE
Ref : Ann Hum Genet , 66 :111 , 2002
Abstract :
PubMedSearch : Talmud_2002_Ann.Hum.Genet_66_111
PubMedID: 12174215

Title : [Genetic factors in myocardial infarction--Results from a candidate gene and a genome-wide approach between beta blockers] - Hengstenberg_2002_Herz_27_649
Author(s) : Hengstenberg C , Brockel U , Holmer S , Mayer B , Fischer M , Baessler A , Erdmann J , Lieb W , Lowel H , Riegger G , Schunkert H
Ref : Herz , 27 :649 , 2002
Abstract :
PubMedSearch : Hengstenberg_2002_Herz_27_649
PubMedID: 12439636

Title : Nephropathy in type 1 diabetes: a manifestation of insulin resistance and multiple genetic susceptibilities? Further evidence from the Pittsburgh Epidemiology of Diabetes Complication Study - Orchard_2002_Kidney.Int_62_963
Author(s) : Orchard TJ , Chang YF , Ferrell RE , Petro N , Ellis DE
Ref : Kidney Int , 62 :963 , 2002
Abstract :
PubMedSearch : Orchard_2002_Kidney.Int_62_963
PubMedID: 12164879

Title : Gender specific associations of the Trp64Arg mutation in the beta3-adrenergic receptor gene with obesity-related phenotypes in a Mediterranean population: interaction with a common lipoprotein lipase gene variation - Corella_2001_J.Intern.Med_250_348
Author(s) : Corella D , Guillen M , Portoles O , Sorli JV , Alonso V , Folch J , Saiz C
Ref : J Intern Med , 250 :348 , 2001
Abstract :
PubMedSearch : Corella_2001_J.Intern.Med_250_348
PubMedID: 11576322

Title : [Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene] - Causeret_2001_Ann.Dermatol.Venereol_128_1343
Author(s) : Causeret AS , Souillet AL , Marcais C , Prunetta V , Lachaux A , Faure M , Claudy A
Ref : Ann Dermatol Venereol , 128 :1343 , 2001
Abstract :
PubMedSearch : Causeret_2001_Ann.Dermatol.Venereol_128_1343
PubMedID: 11908140

Title : Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids - van Bockxmeer_2001_Atherosclerosis_157_123
Author(s) : van Bockxmeer FM , Liu Q , Mamotte C , Burke V , Taylor R
Ref : Atherosclerosis , 157 :123 , 2001
Abstract :
PubMedSearch : van Bockxmeer_2001_Atherosclerosis_157_123
PubMedID: 11427211

Title : [Connection of HindIII-polymorphism of the lipoprotein lipase gene with risk of developing myocardial infarct] -
Author(s) : Mustafina OE , Shagisultanova EI , Tuktarova IA , Khusnutdinova EK
Ref : Mol Biol (Mosk) , 35 :401 , 2001
PubMedID: 11443920

Title : Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: a population-based neuropathological study - Myllykangas_2001_Ann.Med_33_486
Author(s) : Myllykangas L , Polvikoski T , Sulkava R , Notkola IL , Rastas S , Verkkoniemi A , Tienari PJ , Niinisto L , Hardy J , Perez-Tur J , Kontula K , Haltia M
Ref : Ann Med , 33 :486 , 2001
Abstract :
PubMedSearch : Myllykangas_2001_Ann.Med_33_486
PubMedID: 11680797

Title : Polymorphisms in the lipoprotein lipase and hepatic lipase genes and plasma lipid values in the Czech population - Hubacek_2001_Physiol.Res_50_345
Author(s) : Hubacek JA , Waterworth DM , Pitha J , Humphries SE , Talmud PJ , Poledne R
Ref : Physiol Res , 50 :345 , 2001
Abstract :
PubMedSearch : Hubacek_2001_Physiol.Res_50_345
PubMedID: 11551139

Title : [Connection of HindIII-polymorphism in the lipoprotein lipase gene with myocardial infarct and life span in elderly ischemic heart disease patients] - Malygina_2001_Mol.Biol.(Mosk)_35_787
Author(s) : Malygina NA , Melent'ev AS , Kostomarova IV , Melent'ev IA , Saegitov RT , Smirnova Iu B , Serova LD
Ref : Mol Biol (Mosk) , 35 :787 , 2001
Abstract :
PubMedSearch : Malygina_2001_Mol.Biol.(Mosk)_35_787
PubMedID: 11605530

Title : The Ser(447)-Stop polymorphism of lipoprotein lipase is associated with variation in longitudinal serum high-density lipoprotein-cholesterol profiles: the Bogalusa Heart Study - Hallman_2001_Metabolism_50_894
Author(s) : Hallman DM , Srinivasan SR , Elkasabany A , Boerwinkle E , Berenson GS
Ref : Metabolism , 50 :894 , 2001
Abstract :
PubMedSearch : Hallman_2001_Metabolism_50_894
PubMedID: 11474476

Title : Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease - Masana_2001_Clin.Sci.(Lond)_100_183
Author(s) : Masana L , Febrer G , Cavanna J , Baroni MG , Marz W , Hoffmann MM , Shine B , Galton DJ
Ref : Clinical Science (Lond) , 100 :183 , 2001
Abstract :
PubMedSearch : Masana_2001_Clin.Sci.(Lond)_100_183
PubMedID: 11171287

Title : The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease - Clee_2001_Clin.Genet_60_293
Author(s) : Clee SM , Loubser O , Collins J , Kastelein JJ , Hayden MR
Ref : Clin Genet , 60 :293 , 2001
Abstract :
PubMedSearch : Clee_2001_Clin.Genet_60_293
PubMedID: 11683775
Gene_locus related to this paper: human-LPL

Title : Lipoprotein lipase and apoE polymorphisms: relationship to hypertriglyceridemia during pregnancy - McGladdery_2001_J.Lipid.Res_42_1905
Author(s) : McGladdery SH , Frohlich JJ
Ref : J Lipid Res , 42 :1905 , 2001
Abstract :
PubMedSearch : McGladdery_2001_J.Lipid.Res_42_1905
PubMedID: 11714860

Title : [HindIII polymorphism of lipoprotein lipase gene and risk of myocardial infarction] - Shagisultanova_2001_Mol.Gen.Mikrobiol.Virusol__18
Author(s) : Shagisultanova EI , Mustafina OE , Tuktarova IA , Khusnutdinova EK
Ref : Mol Gen Mikrobiol Virusol , :18 , 2001
Abstract :
PubMedSearch : Shagisultanova_2001_Mol.Gen.Mikrobiol.Virusol__18
PubMedID: 11534394

Title : Evidence of LPL gene-exercise interaction for body fat and LPL activity: the HERITAGE Family Study - Garenc_2001_J.Appl.Physiol_91_1334
Author(s) : Garenc C , Perusse L , Bergeron J , Gagnon J , Chagnon YC , Borecki IB , Leon AS , Skinner JS , Wilmore JH , Rao DC , Bouchard C
Ref : J Appl Physiol , 91 :1334 , 2001
Abstract :
PubMedSearch : Garenc_2001_J.Appl.Physiol_91_1334
PubMedID: 11509533

Title : Influence of lipoprotein lipase serine 447 stop polymorphism on tracking of triglycerides and HDL cholesterol from childhood to adulthood and familial risk of coronary artery disease: the Bogalusa heart study - Chen_2001_Atherosclerosis_159_367
Author(s) : Chen W , Srinivasan SR , Elkasabany A , Ellsworth DL , Boerwinkle E , Berenson GS
Ref : Atherosclerosis , 159 :367 , 2001
Abstract :
PubMedSearch : Chen_2001_Atherosclerosis_159_367
PubMedID: 11730816

Title : Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G\/D9N variant predisposes to low HDL-C\/high triglycerides - Samuels_2001_Clin.Genet_59_88
Author(s) : Samuels ME , Forbey KC , Reid JE , Abkevich V , Bulka K , Wardell BR , Bowen BR , Hopkins PN , Hunt SC , Ballinger DG , Skolnick MH , Wagner S
Ref : Clin Genet , 59 :88 , 2001
Abstract :
PubMedSearch : Samuels_2001_Clin.Genet_59_88
PubMedID: 11260209

Title : Polymorphism of the lipoprotein lipase gene and risk of atherothrombotic cerebral infarction in the Japanese - Shimo-Nakanishi_2001_Stroke_32_1481
Author(s) : Shimo-Nakanishi Y , Urabe T , Hattori N , Watanabe Y , Nagao T , Yokochi M , Hamamoto M , Mizuno Y
Ref : Stroke , 32 :1481 , 2001
Abstract :
PubMedSearch : Shimo-Nakanishi_2001_Stroke_32_1481
PubMedID: 11441189

Title : Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 \% are clustered in exons 5 and 6 - Gilbert_2001_Ann.Genet_44_25
Author(s) : Gilbert B , Rouis M , Griglio S , de Lumley L , Laplaud P
Ref : Ann Genet , 44 :25 , 2001
Abstract :
PubMedSearch : Gilbert_2001_Ann.Genet_44_25
PubMedID: 11334614

Title : Genetic variation at the lipoprotein lipase locus and plasma lipoprotein and insulin levels in the Quebec Family Study - Ukkola_2001_Atherosclerosis_158_199
Author(s) : Ukkola O , Garenc C , Perusse L , Bergeron J , Despres JP , Rao DC , Bouchard C
Ref : Atherosclerosis , 158 :199 , 2001
Abstract :
PubMedSearch : Ukkola_2001_Atherosclerosis_158_199
PubMedID: 11500192

Title : Lipoprotein lipase gene polymorphism, cholesterol subfractions and myocardial infarction in large samples of the general population - Holmer_2000_Cardiovasc.Res_47_806
Author(s) : Holmer SR , Hengstenberg C , Mayer B , Doring A , Lowel H , Engel S , Hense HW , Wolf M , Klein G , Riegger GA , Schunkert H
Ref : Cardiovascular Research , 47 :806 , 2000
Abstract :
PubMedSearch : Holmer_2000_Cardiovasc.Res_47_806
PubMedID: 10974229

Title : Frequency and allelic association of common variants in the lipoprotein lipase gene in different ethnic groups: the Wandsworth Heart and Stroke Study - Hall_2000_Genet.Epidemiol_18_203
Author(s) : Hall S , Talmud PJ , Cook DG , Wicks PD , Rothwell MJ , Strazzullo P , Sagnella GA , Cappuccio FP
Ref : Genet Epidemiol , 18 :203 , 2000
Abstract :
PubMedSearch : Hall_2000_Genet.Epidemiol_18_203
PubMedID: 10723106

Title : Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women - Nicklas_2000_Hum.Genet_106_420
Author(s) : Nicklas BJ , Ferrell RE , Rogus EM , Berman DM , Ryan AS , Dennis KE , Goldberg AP
Ref : Hum Genet , 106 :420 , 2000
Abstract :
PubMedSearch : Nicklas_2000_Hum.Genet_106_420
PubMedID: 10830909

Title : The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis - Arca_2000_Clin.Genet_58_369
Author(s) : Arca M , Campagna F , Montali A , Barilla F , Mangieri E , Tanzilli G , Seccareccia F , Campa PP , Ricci G , Pannitteri G
Ref : Clin Genet , 58 :369 , 2000
Abstract :
PubMedSearch : Arca_2000_Clin.Genet_58_369
PubMedID: 11140837

Title : Association of sets of alleles of genes encoding beta3-adrenoreceptor, uncoupling protein 1 and lipoprotein lipase with increased risk of metabolic complications in obesity - Proenza_2000_Int.J.Obes.Relat.Metab.Disord_24_93
Author(s) : Proenza AM , Poissonnet CM , Ozata M , Ozen S , Guran S , Palou A , Strosberg AD
Ref : Int J Obes Relat Metab Disord , 24 :93 , 2000
Abstract :
PubMedSearch : Proenza_2000_Int.J.Obes.Relat.Metab.Disord_24_93
PubMedID: 10702757

Title : Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride\/low HDL-cholesterol levels - Razzaghi_2000_Hum.Genet_107_257
Author(s) : Razzaghi H , Aston CE , Hamman RF , Kamboh MI
Ref : Hum Genet , 107 :257 , 2000
Abstract :
PubMedSearch : Razzaghi_2000_Hum.Genet_107_257
PubMedID: 11071388

Title : Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)) - Bertolini_2000_Clin.Genet_57_140
Author(s) : Bertolini S , Simone ML , Pes GM , Ghisellini M , Rolleri M , Bellocchio A , Elicio N , Masturzo P , Calandra S
Ref : Clin Genet , 57 :140 , 2000
Abstract :
PubMedSearch : Bertolini_2000_Clin.Genet_57_140
PubMedID: 10735636
Gene_locus related to this paper: human-LPL

Title : Relationship of abdominal adiposity and dyslipemic status in women with a common mutation in the lipoprotein lipase gene. The REGICOR investigators - Senti_2000_Atherosclerosis_150_135
Author(s) : Senti M , Bosch M , Aubo C , Elosua R , Masia R , Marrugat J
Ref : Atherosclerosis , 150 :135 , 2000
Abstract :
PubMedSearch : Senti_2000_Atherosclerosis_150_135
PubMedID: 10781644

Title : Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->\;Trp, associated with recurrent severe pancreatitis - Hoffmann_2000_J.Clin.Endocrinol.Metab_85_4795
Author(s) : Hoffmann MM , Jacob S , Luft D , Schmulling RM , Rett K , Marz W , Haring HU , Matthaei S
Ref : J Clinical Endocrinology Metab , 85 :4795 , 2000
Abstract :
PubMedSearch : Hoffmann_2000_J.Clin.Endocrinol.Metab_85_4795
PubMedID: 11134145

Title : A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide - Yoshida_2000_J.Atheroscler.Thromb_7_45
Author(s) : Yoshida T , Gotoda T , Okubo M , Iizuka Y , Ishibashi S , Kojima T , Murakami T , Murase T , Yamada N
Ref : J Atheroscler Thromb , 7 :45 , 2000
Abstract :
PubMedSearch : Yoshida_2000_J.Atheroscler.Thromb_7_45
PubMedID: 11425044
Gene_locus related to this paper: human-LPL

Title : Linkage and association studies of the lipoprotein lipase gene with postheparin plasma lipase activities, body fat, and plasma lipid and lipoprotein concentrations: the HERITAGE Family Study - Garenc_2000_Metabolism_49_432
Author(s) : Garenc C , Perusse L , Gagnon J , Chagnon YC , Bergeron J , Despres JP , Province MA , Leon AS , Skinner JS , Wilmore JH , Rao DC , Bouchard C
Ref : Metabolism , 49 :432 , 2000
Abstract :
PubMedSearch : Garenc_2000_Metabolism_49_432
PubMedID: 10778864

Title : Plasma and vessel wall lipoprotein lipase have different roles in atherosclerosis - Clee_2000_J.Lipid.Res_41_521
Author(s) : Clee SM , Bissada N , Miao F , Miao L , Marais AD , Henderson HE , Steures P , McManus J , McManus B , LeBoeuf RC , Kastelein JJ , Hayden MR
Ref : J Lipid Res , 41 :521 , 2000
Abstract :
PubMedSearch : Clee_2000_J.Lipid.Res_41_521
PubMedID: 10744772

Title : Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study - Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535
Author(s) : Wittrup HH , Tybjaerg-Hansen A , Steffensen R , Deeb SS , Brunzell JD , Jensen G , Nordestgaard BG
Ref : Arterioscler Thromb Vasc Biol , 19 :1535 , 1999
Abstract :
PubMedSearch : Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535
PubMedID: 10364086

Title : Association of pre-eclampsia with common coding sequence variations in the lipoprotein lipase gene - Hubel_1999_Clin.Genet_56_289
Author(s) : Hubel CA , Roberts JM , Ferrell RE
Ref : Clin Genet , 56 :289 , 1999
Abstract :
PubMedSearch : Hubel_1999_Clin.Genet_56_289
PubMedID: 10636447

Title : Analysis of lipoprotein lipase haplotypes reveals associations not apparent from analysis of the constituent loci - Hallman_1999_Ann.Hum.Genet_63_499
Author(s) : Hallman DM , Groenemeijer BE , Jukema JW , Boerwinkle E , Kastelein JJ
Ref : Ann Hum Genet , 63 :499 , 1999
Abstract :
PubMedSearch : Hallman_1999_Ann.Hum.Genet_63_499
PubMedID: 11246452

Title : Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy - Heaney_1999_J.Clin.Endocrinol.Metab_84_1203
Author(s) : Heaney AP , Sharer N , Rameh B , Braganza JM , Durrington PN
Ref : J Clinical Endocrinology Metab , 84 :1203 , 1999
Abstract :
PubMedSearch : Heaney_1999_J.Clin.Endocrinol.Metab_84_1203
PubMedID: 10199753

Title : Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins - Boer_1999_Clin.Genet_56_158
Author(s) : Boer JM , Kuivenhoven JA , Feskens EJ , Schouten EG , Havekes LM , Seidell JC , Kastelein JJ , Kromhout D
Ref : Clin Genet , 56 :158 , 1999
Abstract :
PubMedSearch : Boer_1999_Clin.Genet_56_158
PubMedID: 10517255
Gene_locus related to this paper: human-LPL

Title : A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study - Gagne_1999_Clin.Genet_55_450
Author(s) : Gagne SE , Larson MG , Pimstone SN , Schaefer EJ , Kastelein JJ , Wilson PW , Ordovas JM , Hayden MR
Ref : Clin Genet , 55 :450 , 1999
Abstract :
PubMedSearch : Gagne_1999_Clin.Genet_55_450
PubMedID: 10450862

Title : Human lipoprotein lipase HindIII polymorphism in young patients with myocardial infarction - Gambino_1999_Metabolism_48_1157
Author(s) : Gambino R , Scaglione L , Alemanno N , Pagano G , Cassader M
Ref : Metabolism , 48 :1157 , 1999
Abstract :
PubMedSearch : Gambino_1999_Metabolism_48_1157
PubMedID: 10484057

Title : The lipoprotein lipase HindIII polymorphism: association with total cholesterol and LDL-cholesterol, but not with HDL and triglycerides in 342 females - Larson_1999_Clin.Chem_45_963
Author(s) : Larson I , Hoffmann MM , Ordovas JM , Schaefer EJ , Marz W , Kreuzer J
Ref : Clinical Chemistry , 45 :963 , 1999
Abstract :
PubMedSearch : Larson_1999_Clin.Chem_45_963
PubMedID: 10388470

Title : Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins - Henderson_1999_J.Lipid.Res_40_735
Author(s) : Henderson HE , Kastelein JJ , Zwinderman AH , Gagne E , Jukema JW , Reymer PW , Groenemeyer BE , Lie KI , Bruschke AV , Hayden MR , Jansen H
Ref : J Lipid Res , 40 :735 , 1999
Abstract :
PubMedSearch : Henderson_1999_J.Lipid.Res_40_735
PubMedID: 10191298

Title : Common mutations of the lipoprotein lipase gene and their clinical significance - Gehrisch_1999_Curr.Atheroscler.Rep_1_70
Author(s) : Gehrisch S
Ref : Curr Atheroscler Rep , 1 :70 , 1999
Abstract :
PubMedSearch : Gehrisch_1999_Curr.Atheroscler.Rep_1_70
PubMedID: 11122694
Gene_locus related to this paper: human-LPL

Title : A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia - Kobayashi_1999_Clin.Chim.Acta_285_173
Author(s) : Kobayashi J , Nagashima I , Taira K , Hikita M , Tamura K , Bujo H , Morisaki N , Saito Y
Ref : Clinica Chimica Acta , 285 :173 , 1999
Abstract :
PubMedSearch : Kobayashi_1999_Clin.Chim.Acta_285_173
PubMedID: 10481934
Gene_locus related to this paper: human-LPL

Title : Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women - Kastelein_1999_Clin.Genet_56_297
Author(s) : Kastelein JJ , Ordovas JM , Wittekoek ME , Pimstone SN , Wilson WF , Gagne SE , Larson MG , Schaefer EJ , Boer JM , Gerdes C , Hayden MR
Ref : Clin Genet , 56 :297 , 1999
Abstract :
PubMedSearch : Kastelein_1999_Clin.Genet_56_297
PubMedID: 10636448

Title : [The application of end user computing (EUC) for detection of lipoprotein lipase gene abnormality] - Li_1999_Rinsho.Byori_47_737
Author(s) : Li J , Kobori K , Kondo A , Yonekawa O , Kanno T
Ref : Rinsho Byori , 47 :737 , 1999
Abstract :
PubMedSearch : Li_1999_Rinsho.Byori_47_737
PubMedID: 10511805

Title : Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online - Evans_1998_Hum.Mutat_12_217
Author(s) : Evans D , Wendt D , Ahle S , Guerra A , Beisiegel U
Ref : Hum Mutat , 12 :217 , 1998
Abstract :
PubMedSearch : Evans_1998_Hum.Mutat_12_217
PubMedID: 10660334
Gene_locus related to this paper: human-LPL

Title : Influence of PvuII (intron 6) polymorphism of the lipoprotein lipase gene on cord plasma lipid and apolipoprotein levels in Indian and Chinese newborns of Singapore - Low_1998_Pediatr.Res_43_240
Author(s) : Low PS , Saha N , Tay JS , Arulkumaran S
Ref : Pediatr Res , 43 :240 , 1998
Abstract :
PubMedSearch : Low_1998_Pediatr.Res_43_240
PubMedID: 9475291

Title : The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group - Kastelein_1998_Clin.Genet_53_27
Author(s) : Kastelein JJ , Groenemeyer BE , Hallman DM , Henderson H , Reymer PW , Gagne SE , Jansen H , Seidell JC , Kromhout D , Jukema JW , Bruschke AV , Boerwinkle E , Hayden MR
Ref : Clin Genet , 53 :27 , 1998
Abstract :
PubMedSearch : Kastelein_1998_Clin.Genet_53_27
PubMedID: 9550358

Title : Acute hypertriglyceridaemic pancreatitis in a pregnant Indian: a new lipoprotein lipase gene mutation -
Author(s) : Murugasu CG , Armstrong G , Creedon G , Cavanna JS , Galton DJ , Tomkin GH
Ref : J R Soc Med , 91 :205 , 1998
PubMedID: 9659309
Gene_locus related to this paper: human-LPL

Title : Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides: the European Atherosclerosis Research Study (EARS) - Humphries_1998_Arterioscler.Thromb.Vasc.Biol_18_526
Author(s) : Humphries SE , Nicaud V , Margalef J , Tiret L , Talmud PJ
Ref : Arterioscler Thromb Vasc Biol , 18 :526 , 1998
Abstract :
PubMedSearch : Humphries_1998_Arterioscler.Thromb.Vasc.Biol_18_526
PubMedID: 9555857

Title : Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study - Feoli-Fonseca_1998_J.Pediatr_133_417
Author(s) : Feoli-Fonseca JC , Levy E , Godard M , Lambert M
Ref : J Pediatr , 133 :417 , 1998
Abstract :
PubMedSearch : Feoli-Fonseca_1998_J.Pediatr_133_417
PubMedID: 9738727

Title : DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene - Nickerson_1998_Nat.Genet_19_233
Author(s) : Nickerson DA , Taylor SL , Weiss KM , Clark AG , Hutchinson RG , Stengard J , Salomaa V , Vartiainen E , Boerwinkle E , Sing CF
Ref : Nat Genet , 19 :233 , 1998
Abstract :
PubMedSearch : Nickerson_1998_Nat.Genet_19_233
PubMedID: 9662394
Gene_locus related to this paper: human-LPL

Title : Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event - Henderson_1998_Am.J.Med.Genet_78_313
Author(s) : Henderson HE , Bijvoet SM , Mannens MA , Bruin T , Erkelens DW , Hayden MR , Kastelein JJ
Ref : American Journal of Medicine Genet , 78 :313 , 1998
Abstract :
PubMedSearch : Henderson_1998_Am.J.Med.Genet_78_313
PubMedID: 9714430

Title : Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase - Clark_1998_Am.J.Hum.Genet_63_595
Author(s) : Clark AG , Weiss KM , Nickerson DA , Taylor SL , Buchanan A , Stengard J , Salomaa V , Vartiainen E , Perola M , Boerwinkle E , Sing CF
Ref : American Journal of Human Genetics , 63 :595 , 1998
Abstract :
PubMedSearch : Clark_1998_Am.J.Hum.Genet_63_595
PubMedID: 9683608
Gene_locus related to this paper: human-LPL

Title : LPL promoter -93T\/G transition influences fasting and postprandial plasma triglycerides response in African-Americans and Hispanics - Talmud_1998_J.Lipid.Res_39_1189
Author(s) : Talmud PJ , Hall S , Holleran S , Ramakrishnan R , Ginsberg HN , Humphries SE
Ref : J Lipid Res , 39 :1189 , 1998
Abstract :
PubMedSearch : Talmud_1998_J.Lipid.Res_39_1189
PubMedID: 9643350

Title : The Ser447-Ter mutation of the lipoprotein lipase gene relates to variability of serum lipid and lipoprotein levels in monozygotic twins - Thorn_1998_J.Lipid.Res_39_437
Author(s) : Thorn JA , Needham EW , Mattu RK , Stocks J , Galton DJ
Ref : J Lipid Res , 39 :437 , 1998
Abstract :
PubMedSearch : Thorn_1998_J.Lipid.Res_39_437
PubMedID: 9508003

Title : Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies - Hokanson_1997_Int.J.Clin.Lab.Res_27_24
Author(s) : Hokanson JE
Ref : Int J Clin Lab Res , 27 :24 , 1997
Abstract :
PubMedSearch : Hokanson_1997_Int.J.Clin.Lab.Res_27_24
PubMedID: 9144024

Title : A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease - Wittrup_1997_J.Clin.Invest_99_1606
Author(s) : Wittrup HH , Tybjaerg-Hansen A , Abildgaard S , Steffensen R , Schnohr P , Nordestgaard BG
Ref : J Clinical Investigation , 99 :1606 , 1997
Abstract :
PubMedSearch : Wittrup_1997_J.Clin.Invest_99_1606
PubMedID: 9120004
Gene_locus related to this paper: human-LPL

Title : Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group - Groenemeijer_1997_Circulation_95_2628
Author(s) : Groenemeijer BE , Hallman MD , Reymer PW , Gagne E , Kuivenhoven JA , Bruin T , Jansen H , Lie KI , Bruschke AV , Boerwinkle E , Hayden MR , Kastelein JJ
Ref : Circulation , 95 :2628 , 1997
Abstract :
PubMedSearch : Groenemeijer_1997_Circulation_95_2628
PubMedID: 9193431

Title : Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese - Ko_1997_Hum.Genet_100_327
Author(s) : Ko YL , Ko YS , Wu SM , Teng MS , Chen FR , Hsu TS , Chiang CW , Lee YS
Ref : Hum Genet , 100 :327 , 1997
Abstract :
PubMedSearch : Ko_1997_Hum.Genet_100_327
PubMedID: 9272150

Title : Variation at the lipoprotein lipase and apolipoprotein AI-CIII gene loci are associated with fasting lipid and lipoprotein traits in a population sample from Iceland: interaction between genotype, gender, and smoking status - Peacock_1997_Genet.Epidemiol_14_265
Author(s) : Peacock RE , Temple A , Gudnason V , Rosseneu M , Humphries SE
Ref : Genet Epidemiol , 14 :265 , 1997
Abstract :
PubMedSearch : Peacock_1997_Genet.Epidemiol_14_265
PubMedID: 9181356

Title : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465
Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ
Ref : Hum Mutat , 10 :465 , 1997
Abstract :
PubMedSearch : Mailly_1997_Hum.Mutat_10_465
PubMedID: 9401010

Title : Combined effects of lipoprotein lipase and apolipoprotein E polymorphisms on lipid and lipoprotein levels in the Stanislas cohort - Salah_1997_J.Lipid.Res_38_904
Author(s) : Salah D , Bohnet K , Gueguen R , Siest G , Visvikis S
Ref : J Lipid Res , 38 :904 , 1997
Abstract :
PubMedSearch : Salah_1997_J.Lipid.Res_38_904
PubMedID: 9186908

Title : A common mutation in the lipoprotein lipase gene promoter, -93T\/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro - Hall_1997_Arterioscler.Thromb.Vasc.Biol_17_1969
Author(s) : Hall S , Chu G , Miller G , Cruickshank K , Cooper JA , Humphries SE , Talmud PJ
Ref : Arterioscler Thromb Vasc Biol , 17 :1969 , 1997
Abstract :
PubMedSearch : Hall_1997_Arterioscler.Thromb.Vasc.Biol_17_1969
PubMedID: 9351361

Title : Hind III polymorphism of the lipoprotein lipase gene and plasma lipid response to low calorie diet - Jemaa_1997_Int.J.Obes.Relat.Metab.Disord_21_280
Author(s) : Jemaa R , Tuzet S , Betoulle D , Apfelbaum M , Fumeron F
Ref : Int J Obes Relat Metab Disord , 21 :280 , 1997
Abstract :
PubMedSearch : Jemaa_1997_Int.J.Obes.Relat.Metab.Disord_21_280
PubMedID: 9130024

Title : Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis - Fisher_1997_Atherosclerosis_135_145
Author(s) : Fisher RM , Humphries SE , Talmud PJ
Ref : Atherosclerosis , 135 :145 , 1997
Abstract :
PubMedSearch : Fisher_1997_Atherosclerosis_135_145
PubMedID: 9430364

Title : Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and postprandial states: the European Atherosclerosis Research Studies - Gerdes_1997_Circulation_96_733
Author(s) : Gerdes C , Fisher RM , Nicaud V , Boer J , Humphries SE , Talmud PJ , Faergeman O
Ref : Circulation , 96 :733 , 1997
Abstract :
PubMedSearch : Gerdes_1997_Circulation_96_733
PubMedID: 9264476

Title : A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry - Foubert_1997_Hum.Mutat_10_179
Author(s) : Foubert L , Bruin T , De Gennes JL , Ehrenborg E , Furioli J , Kastelein J , Benlian P , Hayden M
Ref : Hum Mutat , 10 :179 , 1997
Abstract :
PubMedSearch : Foubert_1997_Hum.Mutat_10_179
PubMedID: 9298816
Gene_locus related to this paper: human-LPL

Title : Genetic factors affecting the consistency and magnitude of changes in plasma cholesterol in response to dietary challenge - Humphries_1996_QJM_89_671
Author(s) : Humphries SE , Talmud PJ , Cox C , Sutherland W , Mann J
Ref : Qjm , 89 :671 , 1996
Abstract :
PubMedSearch : Humphries_1996_QJM_89_671
PubMedID: 8917741

Title : A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats - Ginzinger_1996_J.Clin.Invest_97_1257
Author(s) : Ginzinger DG , Lewis ME , Ma Y , Jones BR , Liu G , Jones SD
Ref : Journal of Clinical Investigation , 97 :1257 , 1996
Abstract :
PubMedSearch : Ginzinger_1996_J.Clin.Invest_97_1257
PubMedID: 8636438
Gene_locus related to this paper: felca-lipli

Title : Common DNA polymorphisms at the lipoprotein lipase gene. Association with severity of coronary artery disease and diabetes - Wang_1996_Circulation_93_1339
Author(s) : Wang XL , McCredie RM , Wilcken DE
Ref : Circulation , 93 :1339 , 1996
Abstract :
PubMedSearch : Wang_1996_Circulation_93_1339
PubMedID: 8641022

Title : A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase - Henderson_1996_Biochem.Biophys.Res.Commun_227_189
Author(s) : Henderson HE , Hassan F , Marais D , Hayden MR
Ref : Biochemical & Biophysical Research Communications , 227 :189 , 1996
Abstract :
PubMedSearch : Henderson_1996_Biochem.Biophys.Res.Commun_227_189
PubMedID: 8858123

Title : Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia - de Bruin_1996_Eur.J.Clin.Invest_26_631
Author(s) : de Bruin TW , Mailly F , van Barlingen HH , Fisher R , Castro Cabezas M , Talmud P , Dallinga-Thie GM , Humphries SE
Ref : European Journal of Clinical Investigation , 26 :631 , 1996
Abstract :
PubMedSearch : de Bruin_1996_Eur.J.Clin.Invest_26_631
PubMedID: 8872057
Gene_locus related to this paper: human-LPL

Title : The mutation Gly142-->\;Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes - Busca_1996_J.Biol.Chem_271_2139
Author(s) : Busca R , Martinez M , Vilella E , Pognonec P , Deeb S , Auwerx J , Reina M , Vilaro S
Ref : Journal of Biological Chemistry , 271 :2139 , 1996
Abstract :
PubMedSearch : Busca_1996_J.Biol.Chem_271_2139
PubMedID: 8567671
Gene_locus related to this paper: human-LPL

Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848
Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M
Ref : N Engl J Med , 335 :848 , 1996
Abstract :
PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848
PubMedID: 8778602
Gene_locus related to this paper: human-LPL

Title : Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency - Benlian_1996_Am.J.Hum.Genet_59_431
Author(s) : Benlian P , Foubert L , Gagne E , Bernard L , De Gennes JL , Langlois S , Robinson W , Hayden M
Ref : American Journal of Human Genetics , 59 :431 , 1996
Abstract :
PubMedSearch : Benlian_1996_Am.J.Hum.Genet_59_431
PubMedID: 8755931
Gene_locus related to this paper: human-LPL

Title : Frequencies of five genetic polymorphisms in coronarographed patients and effects on lipid levels in a supposedly healthy population - Regis-Bailly_1996_Clin.Genet_50_339
Author(s) : Regis-Bailly A , Visvikis S , Steinmetz J , Feldmann L , Briancon S , Danchin N , Zannad F , Siest G
Ref : Clin Genet , 50 :339 , 1996
Abstract :
PubMedSearch : Regis-Bailly_1996_Clin.Genet_50_339
PubMedID: 9007321

Title : HindIII DNA polymorphism in the lipoprotein lipase gene and plasma lipid phenotypes and carotid artery atherosclerosis - Chen_1996_Hum.Genet_98_551
Author(s) : Chen L , Patsch W , Boerwinkle E
Ref : Hum Genet , 98 :551 , 1996
Abstract :
PubMedSearch : Chen_1996_Hum.Genet_98_551
PubMedID: 8882874

Title : Family study of lipoprotein lipase gene polymorphisms and plasma triglyceride levels - Georges_1996_Genet.Epidemiol_13_179
Author(s) : Georges JL , Regis-Bailly A , Salah D , Rakotovao R , Siest G , Visvikis S , Tiret L
Ref : Genet Epidemiol , 13 :179 , 1996
Abstract :
PubMedSearch : Georges_1996_Genet.Epidemiol_13_179
PubMedID: 8722745

Title : Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice - Levak-Frank_1995_J.Clin.Invest_96_976
Author(s) : Levak-Frank S , Radner H , Walsh A , Stollberger R , Knipping G , Hoefler G , Sattler W , Weinstock PH , Breslow JL , Zechner R
Ref : J Clinical Investigation , 96 :976 , 1995
Abstract :
PubMedSearch : Levak-Frank_1995_J.Clin.Invest_96_976
PubMedID: 7635990

Title : DNA polymorphisms at the lipoprotein lipase gene are associated with macroangiopathy in type 2 (non-insulin-dependent) diabetes mellitus - Ukkola_1995_Atherosclerosis_115_99
Author(s) : Ukkola O , Savolainen MJ , Salmela PI , von Dickhoff K , Kesaniemi YA
Ref : Atherosclerosis , 115 :99 , 1995
Abstract :
PubMedSearch : Ukkola_1995_Atherosclerosis_115_99
PubMedID: 7669092

Title : Patients with apoE3 deficiency (E2\/2, E3\/2, and E4\/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->\;Ser mutation in the human LPL gene - Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695
Author(s) : Zhang H , Reymer PW , Liu MS , Forsythe IJ , Groenemeyer BE , Frohlich J , Brunzell JD , Kastelein JJ , Hayden MR , Ma Y
Ref : Arterioscler Thromb Vasc Biol , 15 :1695 , 1995
Abstract :
PubMedSearch : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695
PubMedID: 7583546

Title : Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis - Lo_1995_Biochem.Biophys.Res.Commun_206_266
Author(s) : Lo JY , Smith LC , Chan L
Ref : Biochemical & Biophysical Research Communications , 206 :266 , 1995
Abstract :
PubMedSearch : Lo_1995_Biochem.Biophys.Res.Commun_206_266
PubMedID: 7818530

Title : Interaction of the lipoprotein lipase asparagine 291-->\;serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults - Fisher_1995_J.Lipid.Res_36_2104
Author(s) : Fisher RM , Mailly F , Peacock RE , Hamsten A , Seed M , Yudkin JS , Beisiegel U , Feussner G , Miller G , Humphries SE , et al.
Ref : J Lipid Res , 36 :2104 , 1995
Abstract :
PubMedSearch : Fisher_1995_J.Lipid.Res_36_2104
PubMedID: 8576637

Title : A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity - Yang_1995_Proc.Natl.Acad.Sci.U.S.A_92_4462
Author(s) : Yang WS , Nevin DN , Peng R , Brunzell JD , Deeb SS
Ref : Proc Natl Acad Sci U S A , 92 :4462 , 1995
Abstract :
PubMedSearch : Yang_1995_Proc.Natl.Acad.Sci.U.S.A_92_4462
PubMedID: 7753827

Title : The lipoprotein lipase HindIII polymorphism modulates plasma triglyceride levels in visceral obesity - Vohl_1995_Arterioscler.Thromb.Vasc.Biol_15_714
Author(s) : Vohl MC , Lamarche B , Moorjani S , Prud'homme D , Nadeau A , Bouchard C , Lupien PJ , Despres JP
Ref : Arterioscler Thromb Vasc Biol , 15 :714 , 1995
Abstract :
PubMedSearch : Vohl_1995_Arterioscler.Thromb.Vasc.Biol_15_714
PubMedID: 7749885

Title : Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study. Etude Cas Temoin sur l'Infarctus du Myocarde - Jemaa_1995_J.Lipid.Res_36_2141
Author(s) : Jemaa R , Fumeron F , Poirier O , Lecerf L , Evans A , Arveiler D , Luc G , Cambou JP , Bard JM , Fruchart JC , et al.
Ref : J Lipid Res , 36 :2141 , 1995
Abstract :
PubMedSearch : Jemaa_1995_J.Lipid.Res_36_2141
PubMedID: 8576640

Title : Hemolysis in primary lipoprotein lipase deficiency - Cantin_1995_Metabolism_44_652
Author(s) : Cantin B , Boudriau S , Bertrand M , Brun LD , Gagne C , Rogers PA , Ven Murthy MR , Lupien PJ , Julien P
Ref : Metabolism , 44 :652 , 1995
Abstract :
PubMedSearch : Cantin_1995_Metabolism_44_652
PubMedID: 7752915

Title : Polymorphisms in the lipoprotein lipase gene and their associations with plasma lipid concentrations in 40-year-old Danish men - Gerdes_1995_Circulation_92_1765
Author(s) : Gerdes C , Gerdes LU , Hansen PS , Faergeman O
Ref : Circulation , 92 :1765 , 1995
Abstract :
PubMedSearch : Gerdes_1995_Circulation_92_1765
PubMedID: 7671359

Title : A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia - Reymer_1995_Hum.Mol.Genet_4_1543
Author(s) : Reymer PW , Groenemeyer BE , Gagne E , Miao L , Appelman EE , Seidel JC , Kromhout D , Bijvoet SM , van de Oever K , Bruin T , et al.
Ref : Hum Mol Genet , 4 :1543 , 1995
Abstract :
PubMedSearch : Reymer_1995_Hum.Mol.Genet_4_1543
PubMedID: 8541837

Title : Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes - Weinstock_1995_J.Clin.Invest_96_2555
Author(s) : Weinstock PH , Bisgaier CL , Aalto-Setala K , Radner H , Ramakrishnan R , Levak-Frank S , Essenburg AD , Zechner R , Breslow JL
Ref : J Clinical Investigation , 96 :2555 , 1995
Abstract :
PubMedSearch : Weinstock_1995_J.Clin.Invest_96_2555
PubMedID: 8675619

Title : COOH-terminal disruption of lipoprotein lipase in mice is lethal in homozygotes, but heterozygotes have elevated triglycerides and impaired enzyme activity - Coleman_1995_J.Biol.Chem_270_12518
Author(s) : Coleman T , Seip RL , Gimble JM , Lee D , Maeda N , Semenkovich CF
Ref : Journal of Biological Chemistry , 270 :12518 , 1995
Abstract :
PubMedSearch : Coleman_1995_J.Biol.Chem_270_12518
PubMedID: 7759497

Title : Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries - Ma_1994_Hum.Mutat_3_52
Author(s) : Ma Y , Liu MS , Chitayat D , Bruin T , Beisiegel U , Benlian P , Foubert L , De Gennes JL , Funke H , Forsythe I , Blaichman S , Papanikolaou M , Erkelens DW , Kastelein J , Brunzell JD , Hayden MR
Ref : Hum Mutat , 3 :52 , 1994
Abstract :
PubMedSearch : Ma_1994_Hum.Mutat_3_52
PubMedID: 7906986

Title : High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform - Ma_1994_J.Lipid.Res_35_1066
Author(s) : Ma Y , Ooi TC , Liu MS , Zhang H , McPherson R , Edwards AL , Forsythe IJ , Frohlich J , Brunzell JD , Hayden MR
Ref : J Lipid Res , 35 :1066 , 1994
Abstract :
PubMedSearch : Ma_1994_J.Lipid.Res_35_1066
PubMedID: 8077845

Title : The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity -
Author(s) : Nevin DN , Brunzell JD , Deeb SS
Ref : Arteriosclerosis Thromb , 14 :869 , 1994
PubMedID:

Title : DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population - Mattu_1994_Arterioscler.Thromb_14_1090
Author(s) : Mattu RK , Needham EW , Morgan R , Rees A , Hackshaw AK , Stocks J , Elwood PC , Galton DJ
Ref : Arterioscler Thromb , 14 :1090 , 1994
Abstract :
PubMedSearch : Mattu_1994_Arterioscler.Thromb_14_1090
PubMedID: 7912549

Title : A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop\/TGC972-->TGA\; LPLobama) in a patient with primary type IV hyperlipoproteinemia - Takagi_1994_J.Lipid.Res_35_2008
Author(s) : Takagi A , Ikeda Y , Mori A , Tsutsumi Z , Oida K , Nakai T , Yamamoto A
Ref : J Lipid Res , 35 :2008 , 1994
Abstract :
PubMedSearch : Takagi_1994_J.Lipid.Res_35_2008
PubMedID: 7868979
Gene_locus related to this paper: human-LPL

Title : Polymorphisms of the lipoprotein lipase gene and premature atherosclerosis - Galton_1994_J.Intern.Med.Suppl_736_63
Author(s) : Galton DJ , Mattu RK , Cavanna J
Ref : J Intern Med Suppl , 736 :63 , 1994
Abstract :
PubMedSearch : Galton_1994_J.Intern.Med.Suppl_736_63
PubMedID: 7986311

Title : DNA polymorphisms at the lipoprotein lipase gene and their association with quantitative variation in plasma high-density lipoproteins and triacylglycerides - Mitchell_1994_Hum.Biol_66_383
Author(s) : Mitchell RJ , Earl L , Bray P , Fripp YJ , Williams J
Ref : Hum Biol , 66 :383 , 1994
Abstract :
PubMedSearch : Mitchell_1994_Hum.Biol_66_383
PubMedID: 8026810

Title : A new Italian case of lipoprotein lipase deficiency: a Leu365- >\; Val change resulting in loss of enzyme activity - Pepe_1994_Biochem.Biophys.Res.Commun_199_570
Author(s) : Pepe G , Chimienti G , Resta F , Di Perna V , Tarricone C , Lovecchio M , Colacicco AM , Capurso A
Ref : Biochemical & Biophysical Research Communications , 199 :570 , 1994
Abstract :
PubMedSearch : Pepe_1994_Biochem.Biophys.Res.Commun_199_570
PubMedID: 8135797
Gene_locus related to this paper: human-LPL

Title : Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene - Wood_1993_Hum.Genet_91_312
Author(s) : Wood S , Schertzer M , Hayden M , Ma Y
Ref : Hum Genet , 91 :312 , 1993
Abstract :
PubMedSearch : Wood_1993_Hum.Genet_91_312
PubMedID: 8099055

Title : PvuII restriction fragment length polymorphism of lipoprotein lipase in Russians - Stepanov_1993_Hum.Hered_43_388
Author(s) : Stepanov VA , Lemza SV
Ref : Hum Hered , 43 :388 , 1993
Abstract :
PubMedSearch : Stepanov_1993_Hum.Hered_43_388
PubMedID: 7904587

Title : Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22 - Mattei_1993_Cytogenet.Cell.Genet_63_45
Author(s) : Mattei MG , Etienne J , Chuat JC , Nguyen VC , Brault D , Bernheim A , Galibert F
Ref : Cytogenet Cell Genet , 63 :45 , 1993
Abstract :
PubMedSearch : Mattei_1993_Cytogenet.Cell.Genet_63_45
PubMedID: 8449037

Title : Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene - Emi_1993_J.Biol.Chem_268_2120
Author(s) : Emi M , Asaoka H , Matsumoto A , Itakura H , Kurihara Y , Wada Y , Kanamori H , Yazaki Y , Takahashi E , Lepert M , Jean-Marc Lalouel JM , Kodama T , Mukai T
Ref : Journal of Biological Chemistry , 268 :2120 , 1993
Abstract :
PubMedSearch : Emi_1993_J.Biol.Chem_268_2120
PubMedID: 8093617
Gene_locus related to this paper: human-LPL

Title : Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities - Miesenbock_1993_J.Clin.Invest_91_448
Author(s) : Miesenbock G , Holzl B , Foger B , Brandstatter E , Paulweber B , Sandhofer F , Patsch JR
Ref : J Clinical Investigation , 91 :448 , 1993
Abstract :
PubMedSearch : Miesenbock_1993_J.Clin.Invest_91_448
PubMedID: 8432854

Title : Phenotypic variation of mutations in the human lipoprotein-lipase gene - Hayden_1993_Biochem.Soc.Trans_21_506
Author(s) : Hayden MR , Kastelein JJ , Funke H , Brunzell JD , Ma Y
Ref : Biochemical Society Transactions , 21 :506 , 1993
Abstract :
PubMedSearch : Hayden_1993_Biochem.Soc.Trans_21_506
PubMedID: 8359520

Title : Genetic contributions to quantitative lipoprotein traits associated with coronary artery disease: analysis of a large pedigree from the Bogalusa Heart Study - Heiba_1993_Am.J.Med.Genet_47_875
Author(s) : Heiba IM , DeMeester CA , Xia YR , Diep A , George VT , Amos CI , Srinivasan SR , Berenson GS , Elston RC , Lusis AJ
Ref : American Journal of Medicine Genet , 47 :875 , 1993
Abstract :
PubMedSearch : Heiba_1993_Am.J.Med.Genet_47_875
PubMedID: 8279486

Title : Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region - Henderson_1993_J.Lipid.Res_34_1593
Author(s) : Henderson HE , Ma Y , Liu MS , Clark-Lewis I , Maeder DL , Kastelein JJ , Brunzell JD , Hayden MR
Ref : J Lipid Res , 34 :1593 , 1993
Abstract :
PubMedSearch : Henderson_1993_J.Lipid.Res_34_1593
PubMedID: 8228642

Title : A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia - Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046
Author(s) : Kobayashi J , Sasaki N , Tashiro J , Inadera H , Saito Y , Yoshida S
Ref : Biochemical & Biophysical Research Communications , 191 :1046 , 1993
Abstract :
PubMedSearch : Kobayashi_1993_Biochem.Biophys.Res.Commun_191_1046
PubMedID: 8096693
Gene_locus related to this paper: human-LPL

Title : Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene - Ma_1993_J.Clin.Invest_91_1953
Author(s) : Ma Y , Liu MS , Ginzinger D , Frohlich J , Brunzell JD , Hayden MR
Ref : J Clinical Investigation , 91 :1953 , 1993
Abstract :
PubMedSearch : Ma_1993_J.Clin.Invest_91_1953
PubMedID: 8486765
Gene_locus related to this paper: human-LPL

Title : Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes - Wilson_1993_J.Clin.Invest_92_203
Author(s) : Wilson DE , Hata A , Kwong LK , Lingam A , Shuhua J , Ridinger DN , Yeager C , Kaltenborn KC , Iverius PH , Lalouel JM
Ref : J Clinical Investigation , 92 :203 , 1993
Abstract :
PubMedSearch : Wilson_1993_J.Clin.Invest_92_203
PubMedID: 8325986
Gene_locus related to this paper: human-LPL

Title : A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia) - Haubenwallner_1993_Genomics_18_392
Author(s) : Haubenwallner S , Horl G , Shachter NS , Presta E , Fried SK , Hofler G , Kostner GM , Breslow JL , Zechner R
Ref : Genomics , 18 :392 , 1993
Abstract :
PubMedSearch : Haubenwallner_1993_Genomics_18_392
PubMedID: 8288243
Gene_locus related to this paper: human-LPL

Title : Association of a PvuII RFLP at the lipoprotein lipase locus with fasting insulin levels in Hispanic men - Cole_1993_Genet.Epidemiol_10_177
Author(s) : Cole SA , Aston CE , Hamman RF , Ferrell RE
Ref : Genet Epidemiol , 10 :177 , 1993
Abstract :
PubMedSearch : Cole_1993_Genet.Epidemiol_10_177
PubMedID: 8102341

Title : Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec - Normand_1992_Hum.Genet_89_671
Author(s) : Normand T , Bergeron J , Fernandez-Margallo T , Bharucha A , Ven Murthy MR , Julien P , Gagne C , Dionne C , De Braekeleer M , Ma R , Hayden MR , Lupien PJ
Ref : Hum Genet , 89 :671 , 1992
Abstract :
PubMedSearch : Normand_1992_Hum.Genet_89_671
PubMedID: 1511985

Title : A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency - Gotoda_1992_Biochim.Biophys.Acta_1138_353
Author(s) : Gotoda T , Yamada N , Murase T , Miyake S , Murakami R , Kawamura M , Kozaki K , Mori N , Shimano H , Shimada M , Yazaki Y
Ref : Biochimica & Biophysica Acta , 1138 :353 , 1992
Abstract :
PubMedSearch : Gotoda_1992_Biochim.Biophys.Acta_1138_353
PubMedID: 1562620

Title : Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden - Peacock_1992_Atherosclerosis_97_171
Author(s) : Peacock RE , Hamsten A , Nilsson-Ehle P , Humphries SE
Ref : Atherosclerosis , 97 :171 , 1992
Abstract :
PubMedSearch : Peacock_1992_Atherosclerosis_97_171
PubMedID: 1466662

Title : Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion - Stocks_1992_J.Lipid.Res_33_853
Author(s) : Stocks J , Thorn JA , Galton DJ
Ref : J Lipid Res , 33 :853 , 1992
Abstract :
PubMedSearch : Stocks_1992_J.Lipid.Res_33_853
PubMedID: 1355102

Title : Trp64->nonsense mutation in the lipoprotein lipase gene - Sprecher_1992_J.Lipid.Res_33_859
Author(s) : Sprecher DL , Kobayashi J , Rymaszewski M , Goldberg IJ , Harris BV , Bellet PS , Ameis D , Yunker RL , Black DM , Stein EA , Schotz MC , Wiginton DA
Ref : J Lipid Res , 33 :859 , 1992
Abstract :
PubMedSearch : Sprecher_1992_J.Lipid.Res_33_859
PubMedID: 1512512

Title : Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript - Takagi_1992_J.Clin.Invest_89_581
Author(s) : Takagi A , Ikeda Y , Tsutsumi Z , Shoji T , Yamamoto A
Ref : J Clinical Investigation , 89 :581 , 1992
Abstract :
PubMedSearch : Takagi_1992_J.Clin.Invest_89_581
PubMedID: 1737848

Title : The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency - Henderson_1992_J.Med.Genet_29_119
Author(s) : Henderson HE , Hassan F , Berger GM , Hayden MR
Ref : Journal of Medical Genetics , 29 :119 , 1992
Abstract :
PubMedSearch : Henderson_1992_J.Med.Genet_29_119
PubMedID: 1351946

Title : A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia - Kobayashi_1992_Biochem.Biophys.Res.Commun_182_70
Author(s) : Kobayashi J , Nishida T , Ameis D , Stahnke G , Schotz MC , Hashimoto H , Fukamachi I , Shirai K , Saito Y , Yoshida S
Ref : Biochemical & Biophysical Research Communications , 182 :70 , 1992
Abstract :
PubMedSearch : Kobayashi_1992_Biochem.Biophys.Res.Commun_182_70
PubMedID: 1731801

Title : A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family - Chimienti_1992_Biochem.Biophys.Res.Commun_187_620
Author(s) : Chimienti G , Capurso A , Resta F , Pepe G
Ref : Biochemical & Biophysical Research Communications , 187 :620 , 1992
Abstract :
PubMedSearch : Chimienti_1992_Biochem.Biophys.Res.Commun_187_620
PubMedID: 1530621
Gene_locus related to this paper: human-LPL

Title : Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec - Bergeron_1992_Clin.Genet_41_206
Author(s) : Bergeron J , Normand T , Bharucha A , Ven Murthy MR , Julien P , Gagne C , Dionne C , De Braekeleer M , Brun D , Hayden MR , Luplen PJ
Ref : Clin Genet , 41 :206 , 1992
Abstract :
PubMedSearch : Bergeron_1992_Clin.Genet_41_206
PubMedID: 1576758
Gene_locus related to this paper: human-LPL

Title : A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia - Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275
Author(s) : Ishimura-Oka K , Faustinella F , Kihara S , Smith LC , Oka K , Chan L
Ref : American Journal of Human Genetics , 50 :1275 , 1992
Abstract :
PubMedSearch : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275
PubMedID: 1598907
Gene_locus related to this paper: human-LPL

Title : A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma_1992_Genomics_13_649
Author(s) : Ma Y , Wilson BI , Bijvoet S , Henderson HE , Cramb E , Roederer G , Ven Murthy MR , Julien P , Bakker HD , Kastelein JJ , Brunzel JD , Hayden MR
Ref : Genomics , 13 :649 , 1992
Abstract :
PubMedSearch : Ma_1992_Genomics_13_649
PubMedID: 1639392
Gene_locus related to this paper: human-LPL

Title : Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization - Hata_1992_J.Biol.Chem_267_20132
Author(s) : Hata A , Ridinger DN , Sutherland SD , Emi M , Kwong LK , Shuhua J , Lubbers A , Guy-Grand B , Basdevant A , Iverius PH , et al.
Ref : Journal of Biological Chemistry , 267 :20132 , 1992
Abstract :
PubMedSearch : Hata_1992_J.Biol.Chem_267_20132
PubMedID: 1400331
Gene_locus related to this paper: human-LPL

Title : Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes - Reina_1992_J.Lipid.Res_33_1823
Author(s) : Reina M , Brunzell JD , Deeb SS
Ref : J Lipid Res , 33 :1823 , 1992
Abstract :
PubMedSearch : Reina_1992_J.Lipid.Res_33_1823
PubMedID: 1479292
Gene_locus related to this paper: human-LPL

Title : Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion - Gotoda_1992_J.Lipid.Res_33_1067
Author(s) : Gotoda T , Yamada N , Murase T , Shimano H , Shimada M , Harada K , Kawamura M , Kozaki K , Yazaki Y
Ref : J Lipid Res , 33 :1067 , 1992
Abstract :
PubMedSearch : Gotoda_1992_J.Lipid.Res_33_1067
PubMedID: 1358995
Gene_locus related to this paper: human-LPL

Title : Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia - Paulweber_1991_Atherosclerosis_86_239
Author(s) : Paulweber B , Wiebusch H , Miesenboeck G , Funke H , Assmann G , Hoelzl B , Sippl MJ , Friedl W , Patsch JR , Sandhofer F
Ref : Atherosclerosis , 86 :239 , 1991
Abstract :
PubMedSearch : Paulweber_1991_Atherosclerosis_86_239
PubMedID: 1872917

Title : Identification of the molecular defects underlying chylomicronemia in the majority of 75 separate probands with LPL deficiency. (Abstract) -
Author(s) : Henderson H , Ma Y , Kastelein J , Roederer G , Julien P , Brunzell J , Hayden MR
Ref : Clin Res , 39 :336A , 1991
PubMedID:

Title : Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome - Dichek_1991_J.Biol.Chem_266_473
Author(s) : Dichek HL , Fojo SS , Beg OU , Skarlatos SI , Brunzell JD , Cutler GB, Jr. , Brewer HB, Jr.
Ref : Journal of Biological Chemistry , 266 :473 , 1991
Abstract :
PubMedSearch : Dichek_1991_J.Biol.Chem_266_473
PubMedID: 1702428
Gene_locus related to this paper: human-LPL

Title : Founder effect in familial hyperchylomicronemia among French Canadians of Quebec - De Braekeleer_1991_Hum.Hered_41_168
Author(s) : De Braekeleer M , Dionne C , Gagne C , Julien P , Brun D , Ven Murthy MR , Lupien PJ
Ref : Hum Hered , 41 :168 , 1991
Abstract :
PubMedSearch : De Braekeleer_1991_Hum.Hered_41_168
PubMedID: 1937490
Gene_locus related to this paper: human-LPL

Title : Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene - Ameis_1991_J.Clin.Invest_87_1165
Author(s) : Ameis D , Kobayashi J , Davis RC , Ben-Zeev O , Malloy MJ , Kane JP , Lee G , Wong H , Havel RJ , Schotz MC
Ref : J Clinical Investigation , 87 :1165 , 1991
Abstract :
PubMedSearch : Ameis_1991_J.Clin.Invest_87_1165
PubMedID: 2010533
Gene_locus related to this paper: human-LPL

Title : A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians - Ma_1991_N.Engl.J.Med_324_1761
Author(s) : Ma Y , Henderson HE , Murthy V , Roederer G , Monsalve MV , Clarke LA , Normand T , Julien P , Gagne C , Lambert M , et al.
Ref : N Engl J Med , 324 :1761 , 1991
Abstract :
PubMedSearch : Ma_1991_N.Engl.J.Med_324_1761
PubMedID: 2038366
Gene_locus related to this paper: human-LPL

Title : Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin - Henderson_1991_J.Clin.Invest_87_2005
Author(s) : Henderson HE , Ma Y , Hassan MF , Monsalve MV , Marais AD , Winkler F , Gubernator K , Peterson J , Brunzell JD , Hayden MR
Ref : J Clinical Investigation , 87 :2005 , 1991
Abstract :
PubMedSearch : Henderson_1991_J.Clin.Invest_87_2005
PubMedID: 1674945
Gene_locus related to this paper: human-LPL

Title : Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family - Faustinella_1991_J.Biol.Chem_266_14418
Author(s) : Faustinella F , Chang A , Van Biervliet JP , Rosseneu M , Vinaimont N , Smith LC , Chen SH , Chan L
Ref : Journal of Biological Chemistry , 266 :14418 , 1991
Abstract :
PubMedSearch : Faustinella_1991_J.Biol.Chem_266_14418
PubMedID: 1907278
Gene_locus related to this paper: human-LPL

Title : Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency - Gotoda_1991_J.Clin.Invest_88_1856
Author(s) : Gotoda T , Yamada N , Kawamura M , Kozaki K , Mori N , Ishibashi S , Shimano H , Takaku F , Yazaki Y , Furuichi Y , et al.
Ref : J Clinical Investigation , 88 :1856 , 1991
Abstract :
PubMedSearch : Gotoda_1991_J.Clin.Invest_88_1856
PubMedID: 1752947
Gene_locus related to this paper: human-LPL

Title : DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels - Heizmann_1991_Hum.Genet_86_578
Author(s) : Heizmann C , Kirchgessner T , Kwiterovich PO , Ladias JA , Derby C , Antonarakis SE , Lusis AJ
Ref : Hum Genet , 86 :578 , 1991
Abstract :
PubMedSearch : Heizmann_1991_Hum.Genet_86_578
PubMedID: 1673959

Title : Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency - Emi_1990_J.Biol.Chem_265_5910
Author(s) : Emi M , Wilson DE , Iverius PH , Wu L , Hata A , Hegele R , Williams RR , Lalouel JM
Ref : Journal of Biological Chemistry , 265 :5910 , 1990
Abstract :
PubMedSearch : Emi_1990_J.Biol.Chem_265_5910
PubMedID: 1969408
Gene_locus related to this paper: human-LPL

Title : Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene - Emi_1990_Am.J.Hum.Genet_47_107
Author(s) : Emi M , Hata A , Robertson M , Iverius PH , Hegele R , Lalouel JM
Ref : American Journal of Human Genetics , 47 :107 , 1990
Abstract :
PubMedSearch : Emi_1990_Am.J.Hum.Genet_47_107
PubMedID: 2349938
Gene_locus related to this paper: human-LPL

Title : Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency - Devlin_1990_Am.J.Hum.Genet_46_112
Author(s) : Devlin RH , Deeb S , Brunzell J , Hayden MR
Ref : American Journal of Human Genetics , 46 :112 , 1990
Abstract :
PubMedSearch : Devlin_1990_Am.J.Hum.Genet_46_112
PubMedID: 2294743
Gene_locus related to this paper: human-LPL

Title : Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation - Wilson_1990_J.Clin.Invest_86_735
Author(s) : Wilson DE , Emi M , Iverius PH , Hata A , Wu LL , Hillas E , Williams RR , Lalouel JM
Ref : J Clinical Investigation , 86 :735 , 1990
Abstract :
PubMedSearch : Wilson_1990_J.Clin.Invest_86_735
PubMedID: 2394828

Title : Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity - Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474
Author(s) : Beg OU , Meng MS , Skarlatos SI , Previato L , Brunzell JD , Brewer HB, Jr. , Fojo SS
Ref : Proc Natl Acad Sci U S A , 87 :3474 , 1990
Abstract :
PubMedSearch : Beg_1990_Proc.Natl.Acad.Sci.U.S.A_87_3474
PubMedID: 2110364
Gene_locus related to this paper: human-LPL

Title : A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries - Monsalve_1990_J.Clin.Invest_86_728
Author(s) : Monsalve MV , Henderson H , Roederer G , Julien P , Deeb S , Kastelein JJ , Peritz L , Devlin R , Bruin T , Murthy MR , et al.
Ref : J Clinical Investigation , 86 :728 , 1990
Abstract :
PubMedSearch : Monsalve_1990_J.Clin.Invest_86_728
PubMedID: 1975597
Gene_locus related to this paper: human-LPL

Title : Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene - Hata_1990_Am.J.Hum.Genet_47_721
Author(s) : Hata A , Emi M , Luc G , Basdevant A , Gambert P , Iverius PH , Lalouel JM
Ref : American Journal of Human Genetics , 47 :721 , 1990
Abstract :
PubMedSearch : Hata_1990_Am.J.Hum.Genet_47_721
PubMedID: 2121025
Gene_locus related to this paper: human-LPL

Title : PCR assay for a polymorphic PvuII site in the LPL gene -
Author(s) : Johnson JP , Nishina PM , Naggert JK
Ref : Nucleic Acids Research , 18 :7469 , 1990
PubMedID: 1979679

Title : Organization of the human lipoprotein lipase gene and evolution of the lipase gene family - Kirchgessner_1989_Proc.Natl.Acad.Sci.U.S.A_86_9647
Author(s) : Kirchgessner TG , Chuat JC , Heinzmann C , Etienne J , Guilhot S , Svenson K , Ameis D , Pilon C , d'Auriol L , Andalibi A , et al.
Ref : Proc Natl Acad Sci U S A , 86 :9647 , 1989
Abstract :
PubMedSearch : Kirchgessner_1989_Proc.Natl.Acad.Sci.U.S.A_86_9647
PubMedID: 2602366

Title : The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency. (Abstract) - Devlin_1989_Am.J.Hum.Genet_45_A4
Author(s) : Devlin R , Henderson H , Monsalve V , Brunzell J , Deeb S , Hayden MR
Ref : American Journal of Human Genetics , 45 (suppl.) :A4 , 1989
Abstract :
PubMedSearch : Devlin_1989_Am.J.Hum.Genet_45_A4
PubMedID:

Title : Lipoprotein lipase with a defect in lipid interface recognition in a case with type I hyperlipidaemia - Kobayashi_1989_Eur.J.Clin.Invest_19_424
Author(s) : Kobayashi J , Shirai K , Saito Y , Yoshida S
Ref : European Journal of Clinical Investigation , 19 :424 , 1989
Abstract :
PubMedSearch : Kobayashi_1989_Eur.J.Clin.Invest_19_424
PubMedID: 2511018
Gene_locus related to this paper: human-LPL

Title : Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases - Eckel_1989_N.Engl.J.Med_320_1060
Author(s) : Eckel RH
Ref : N Engl J Med , 320 :1060 , 1989
Abstract :
PubMedSearch : Eckel_1989_N.Engl.J.Med_320_1060
PubMedID: 2648155

Title : Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population - Gagne_1989_Cmaj_140_405
Author(s) : Gagne C , Brun LD , Julien P , Moorjani S ,