Wolman disease WD, Cholesterol Ester Storage Disease, CESD

Alternative name(s) : Wolman disease, Cholesterol ester storage disorder, Wolman disease; WD, Lysosomal acid lipase Deficiency, LIPA Deficiency, LAL Deficiency, LAL-D, LALD, acid cholesteryl ester hydrolase Deficiency, Wolman type, cholesterol ester hydrolase Deficiency, cholesterol ester storage disease; CESD, CESD, cholesteryl ester storage disease, acid cholesteryl ester hydrolase Deficiency, type 2

Gene_locus : 1

Mutation : 67

OMIM : 278000 , 613497

Comment
(from OMIM) Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the human-LIPA gene. The relatively nonspecific clinical picture of Wolman disease (WD) includes poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance, and death by nutritional failure by 2 to 4 months of age.Sebelipase alfa (Kanuma(R), Kanuma), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D). CESD is distinct from WD in that at least one mutant allele has the potential to produce enough residual enzymatic function to ameliorate the phenotype; in the majority of CESD cases this may come from a single, easily detected, splicing mutation in one allele. Lysosomal acid lipase (LAL) is a key enzyme in the metabolic pathway of neutral lipids, whose deficiency (LAL-D) induces the differentiation of myeloid lineage cells into myeloid-derived suppressor cells (MDSCs), which promotes tumor growth and metastasis

References (134)

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA , mouse-1llip

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: mouse-1llip , human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

Title : Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature - Rashu_2020_World.J.Clin.Cases_8_1642
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Gene_locus related to this paper: human-LIPA

Title : Progressive macrophage accumulation in lysosomal acid lipase deficiency - Lipinski_2020_Mol.Genet.Metab.Rep_23_100594
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Gene_locus related to this paper: human-LIPA

Title : Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency - Del Angel_2019_Hum.Mutat_40_2007
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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

Title : Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity - Vinje_2019_Hum.Mol.Genet_28_3043
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Gene_locus related to this paper: human-LIPA

Title : The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency - Bychkov_2019_Mol.Genet.Metab_127_212
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Gene_locus related to this paper: human-LIPA

Title : Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights - Cappuccio_2019_J.Inherit.Metab.Dis_42_509
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Gene_locus related to this paper: human-LIPA

Title : Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation - Leopold_2019_Biochim.Biophys.Acta.Mol.Cell.Biol.Lipids_1864_500
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Gene_locus related to this paper: mouse-1llip

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

Title : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124
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Gene_locus related to this paper: human-LIPA

Title : Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update - Bay_2017_Arch.Argent.Pediatr_115_287
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Title : Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study - Jones_2017_Orphanet.J.Rare.Dis_12_25
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Gene_locus related to this paper: human-LIPA

Title : The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency - Erwin_2017_Therap.Adv.Gastroenterol_10_553
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Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? - Chora_2017_J.Clin.Lipidol_11_477
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Gene_locus related to this paper: human-LIPA

Title : Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2 - Lukacs_2017_Clin.Chim.Acta_471_201
Author(s) : Lukacs Z , Barr M , Hamilton J
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Gene_locus related to this paper: human-LIPA

Title : A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease - Tovoli_2017_Int.J.Mol.Sci_18_
Author(s) : Tovoli F , Napoli L , Negrini G , D'Addato S , Tozzi G , D'Amico J , Piscaglia F , Bolondi L
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Abstract :
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Gene_locus related to this paper: human-LIPA

Title : Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report - Kuranobu_2016_Hepatol.Res_46_477
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Gene_locus related to this paper: human-LIPA

Title : Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations - Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277
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PubMedID:
Gene_locus related to this paper: human-LIPA

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Gene_locus related to this paper: human-LIPA

Title : Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency - Paton_2016_Drugs.Today.(Barc)_52_287
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Gene_locus related to this paper: human-LIPA

Title : Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa - Su_2016_Appl.Clin.Genet_9_157
Author(s) : Su K , Donaldson E , Sharma R
Ref : Appl Clin Genet , 9 :157 , 2016
Abstract :
PubMedSearch : Su_2016_Appl.Clin.Genet_9_157
PubMedID: 27799810
Gene_locus related to this paper: human-LIPA

Title : A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency - Burton_2015_N.Engl.J.Med_373_1010
Author(s) : Burton BK , Balwani M , Feillet F , Baric I , Burrow TA , Camarena Grande C , Coker M , Consuelo-Sanchez A , Deegan P , Di Rocco M , Enns GM , Erbe R , Ezgu F , Ficicioglu C , Furuya KN , Kane J , Laukaitis C , Mengel E , Neilan EG , Nightingale S , Peters H , Scarpa M , Schwab KO , Smolka V , Valayannopoulos V , Wood M , Goodman Z , Yang Y , Eckert S , Rojas-Caro S , Quinn AG
Ref : N Engl J Med , 373 :1010 , 2015
Abstract :
PubMedSearch : Burton_2015_N.Engl.J.Med_373_1010
PubMedID: 26352813
Gene_locus related to this paper: human-LIPA

Title : Sebelipase alfa: first global approval - Shirley_2015_Drugs_75_1935
Author(s) : Shirley M
Ref : Drugs , 75 :1935 , 2015
Abstract :
PubMedSearch : Shirley_2015_Drugs_75_1935
PubMedID: 26452566
Gene_locus related to this paper: human-LIPA

Title : Identification and metabolic profiling of patients with lysosomal acid lipase deficiency - Pullinger_2015_J.Clin.Lipidol_9_716
Author(s) : Pullinger CR , Stock EO , Movsesyan I , Malloy MJ , Frost PH , Tripuraneni R , Quinn AG , Ishida BY , Schaefer EJ , Asztalos BF , Kane JP
Ref : J Clin Lipidol , 9 :716 , 2015
Abstract :
PubMedSearch : Pullinger_2015_J.Clin.Lipidol_9_716
PubMedID: 26350820
Gene_locus related to this paper: human-LIPA

Title : Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency - Santillan-Hernandez_2015_World.J.Gastroenterol_21_1001
Author(s) : Santillan-Hernandez Y , Almanza-Miranda E , Xin WW , Goss K , Vera-Loaiza A , Gorraez-de la Mora MT , Pina-Aguilar RE
Ref : World J Gastroenterol , 21 :1001 , 2015
Abstract :
PubMedSearch : Santillan-Hernandez_2015_World.J.Gastroenterol_21_1001
PubMedID: 25624737
Gene_locus related to this paper: human-LIPA

Title : New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease) -
Author(s) : Gomez-Najera M , Barajas-Medina H , Gallegos-Rivas MC , Mendez-Sashida P , Goss KA , Sims KB , Tripuraneni R , Valles-Ayoub Y
Ref : J Pediatr Gastroenterol Nutr , 60 :e22 , 2015
PubMedID: 24048164
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction - Reiner_2014_Atherosclerosis_235_21
Author(s) : Reiner Z , Guardamagna O , Nair D , Soran H , Hovingh K , Bertolini S , Jones S , Coric M , Calandra S , Hamilton J , Eagleton T , Ros E
Ref : Atherosclerosis , 235 :21 , 2014
Abstract :
PubMedSearch : Reiner_2014_Atherosclerosis_235_21
PubMedID: 24792990
Gene_locus related to this paper: human-LIPA

Title : Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency - Valayannopoulos_2014_J.Hepatol_61_1135
Author(s) : Valayannopoulos V , Malinova V , Honzik T , Balwani M , Breen C , Deegan PB , Enns GM , Jones SA , Kane JP , Stock EO , Tripuraneni R , Eckert S , Schneider E , Hamilton G , Middleton MS , Sirlin C , Kessler B , Bourdon C , Boyadjiev SA , Sharma R , Twelves C , Whitley CB , Quinn AG
Ref : Journal of Hepatology , 61 :1135 , 2014
Abstract :
PubMedSearch : Valayannopoulos_2014_J.Hepatol_61_1135
PubMedID: 24993530
Gene_locus related to this paper: human-LIPA

Title : Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease - Civallero_2014_Gene_539_154
Author(s) : Civallero G , De Mari J , Bittar C , Burin M , Giugliani R
Ref : Gene , 539 :154 , 2014
Abstract :
PubMedSearch : Civallero_2014_Gene_539_154
PubMedID: 24508470
Gene_locus related to this paper: human-LIPA

Title : A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease - Dairaku_2014_Mol.Genet.Metab_111_193
Author(s) : Dairaku T , Iwamoto T , Nishimura M , Endo M , Ohashi T , Eto Y
Ref : Mol Genet Metab , 111 :193 , 2014
Abstract :
PubMedSearch : Dairaku_2014_Mol.Genet.Metab_111_193
PubMedID: 24295952
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease - Bernstein_2013_J.Hepatol_58_1230
Author(s) : Bernstein DL , Hulkova H , Bialer MG , Desnick RJ
Ref : Journal of Hepatology , 58 :1230 , 2013
Abstract :
PubMedSearch : Bernstein_2013_J.Hepatol_58_1230
PubMedID: 23485521
Gene_locus related to this paper: human-LIPA

Title : Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene - Kojima_2013_Hepatol.Res_43_1361
Author(s) : Kojima S , Watanabe N , Takashimizu S , Kagawa T , Shiraishi K , Koizumi J , Hirabayashi K , Ohkubo T , Kamiguchi H , Tsuda M , Mine T
Ref : Hepatol Res , 43 :1361 , 2013
Abstract :
PubMedSearch : Kojima_2013_Hepatol.Res_43_1361
PubMedID: 23675960
Gene_locus related to this paper: human-LIPA

Title : [Wolman disease with novel mutation of LIPA gene in a Chinese infant] - Huang_2012_Zhonghua.Er.Ke.Za.Zhi_50_601
Author(s) : Huang YL , Sheng HY , Zhao XY , Yu JK , Li L , Liu HS , Gu CM , He DM , Liu L
Ref : Zhonghua Er Ke Za Zhi , 50 :601 , 2012
Abstract :
PubMedSearch : Huang_2012_Zhonghua.Er.Ke.Za.Zhi_50_601
PubMedID: 23158738
Gene_locus related to this paper: human-LIPA

Title : Structural bases of Wolman disease and cholesteryl ester storage disease - Saito_2012_Mol.Genet.Metab_105_244
Author(s) : Saito S , Ohno K , Suzuki T , Sakuraba H
Ref : Mol Genet Metab , 105 :244 , 2012
Abstract :
PubMedSearch : Saito_2012_Mol.Genet.Metab_105_244
PubMedID: 22138108
Gene_locus related to this paper: human-LIPA

Title : A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2 - Hamilton_2012_Clin.Chim.Acta_413_1207
Author(s) : Hamilton J , Jones I , Srivastava R , Galloway P
Ref : Clinica Chimica Acta , 413 :1207 , 2012
Abstract :
PubMedSearch : Hamilton_2012_Clin.Chim.Acta_413_1207
PubMedID: 22483793
Gene_locus related to this paper: human-LIPA

Title : Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease - Fasano_2012_Mol.Genet.Metab_105_450
Author(s) : Fasano T , Pisciotta L , Bocchi L , Guardamagna O , Assandro P , Rabacchi C , Zanoni P , Filocamo M , Bertolini S , Calandra S
Ref : Mol Genet Metab , 105 :450 , 2012
Abstract :
PubMedSearch : Fasano_2012_Mol.Genet.Metab_105_450
PubMedID: 22227072
Gene_locus related to this paper: human-LIPA

Title : Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry - Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395
Author(s) : Valles-Ayoub Y , Esfandiarifard S , No D , Sinai P , Khokher Z , Kohan M , Kahen T , Darvish D
Ref : Genet Test Mol Biomarkers , 15 :395 , 2011
Abstract :
PubMedSearch : Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395
PubMedID: 21291321

Title : A case of cholesterol ester storage disease with hyperlipidemia and liver dysfunction -
Author(s) : Yorifuji T , Ide M , Nagai S
Ref : Clinical Endocrinology (Oxf) , 58 (Suppl) :187 , 2010
PubMedID:
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene - Pisciotta_2009_Mol.Genet.Metab_97_143
Author(s) : Pisciotta L , Fresa R , Bellocchio A , Pino E , Guido V , Cantafora A , Di Rocco M , Calandra S , Bertolini S
Ref : Mol Genet Metab , 97 :143 , 2009
Abstract :
PubMedSearch : Pisciotta_2009_Mol.Genet.Metab_97_143
PubMedID: 19307143
Gene_locus related to this paper: human-LIPA

Title : A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease - Hooper_2008_Clin.Chim.Acta_398_152
Author(s) : Hooper AJ , Tran HA , Formby MR , Burnett JR
Ref : Clinica Chimica Acta , 398 :152 , 2008
Abstract :
PubMedSearch : Hooper_2008_Clin.Chim.Acta_398_152
PubMedID: 18775687
Gene_locus related to this paper: human-LIPA

Title : Wolman disease\/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice - Du_2008_J.Lipid.Res_49_1646
Author(s) : Du H , Cameron TL , Garger SJ , Pogue GP , Hamm LA , White E , Hanley KM , Grabowski GA
Ref : J Lipid Res , 49 :1646 , 2008
Abstract :
PubMedSearch : Du_2008_J.Lipid.Res_49_1646
PubMedID: 18413899
Gene_locus related to this paper: mouse-1llip

Title : Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report - Drebber_2005_World.J.Gastroenterol_11_2364
Author(s) : Drebber U , Andersen M , Kasper HU , Lohse P , Stolte M , Dienes HP
Ref : World J Gastroenterol , 11 :2364 , 2005
Abstract :
PubMedSearch : Drebber_2005_World.J.Gastroenterol_11_2364
PubMedID: 15818756

Title : Lysosomal Acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice - Du_2002_Hum.Gene.Ther_13_1361
Author(s) : Du H , Heur M , Witte DP , Ameis D , Grabowski GA
Ref : Hum Gene Therapy , 13 :1361 , 2002
Abstract :
PubMedSearch : Du_2002_Hum.Gene.Ther_13_1361
PubMedID: 12162818
Gene_locus related to this paper: mouse-1llip

Title : Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease - Zschenker_2001_J.Lipid.Res_42_1033
Author(s) : Zschenker O , Jung N , Rethmeier J , Trautwein S , Hertel S , Zeigler M , Ameis D
Ref : J Lipid Res , 42 :1033 , 2001
Abstract :
PubMedSearch : Zschenker_2001_J.Lipid.Res_42_1033
PubMedID: 11441129
Gene_locus related to this paper: human-LIPA

Title : Enzyme therapy for lysosomal acid lipase deficiency in the mouse - Du_2001_Hum.Mol.Genet_10_1639
Author(s) : Du H , Schiavi S , Levine M , Mishra J , Heur M , Grabowski GA
Ref : Hum Mol Genet , 10 :1639 , 2001
Abstract :
PubMedSearch : Du_2001_Hum.Mol.Genet_10_1639
PubMedID: 11487567
Gene_locus related to this paper: mouse-1llip

Title : Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase - Tietge_2001_Hum.Gene.Ther_12_279
Author(s) : Tietge UJ , Sun G , Czarnecki S , Yu Q , Lohse P , Du H , Grabowski GA , Glick JM , Rader DJ
Ref : Hum Gene Therapy , 12 :279 , 2001
Abstract :
PubMedSearch : Tietge_2001_Hum.Gene.Ther_12_279
PubMedID: 11177564
Gene_locus related to this paper: human-LIPA

Title : Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease - Lohse_2000_J.Lipid.Res_41_23
Author(s) : Lohse P , Maas S , Elleder M , Kirk JM , Besley GT , Seidel D
Ref : J Lipid Res , 41 :23 , 2000
Abstract :
PubMedSearch : Lohse_2000_J.Lipid.Res_41_23
PubMedID: 10627498
Gene_locus related to this paper: human-LIPA

Title : Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer - Elleder_2000_J.Hepatol_32_528
Author(s) : Elleder M , Chlumska A , Hyanek J , Poupetova H , Ledvinova J , Maas S , Lohse P
Ref : Journal of Hepatology , 32 :528 , 2000
Abstract :
PubMedSearch : Elleder_2000_J.Hepatol_32_528
PubMedID: 10735626
Gene_locus related to this paper: human-LIPA

Title : Wolman disease successfully treated by bone marrow transplantation - Krivit_2000_Bone.Marrow.Transplant_26_567
Author(s) : Krivit W , Peters C , Dusenbery K , Ben-Yoseph Y , Ramsay NK , Wagner JE , Anderson R
Ref : Bone Marrow Transplant , 26 :567 , 2000
Abstract :
PubMedSearch : Krivit_2000_Bone.Marrow.Transplant_26_567
PubMedID: 11019848
Gene_locus related to this paper: human-LIPA

Title : Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease - Lohse_1999_J.Lipid.Res_40_221
Author(s) : Lohse P , Maas S , Sewell AC , van Diggelen OP , Seidel D
Ref : J Lipid Res , 40 :221 , 1999
Abstract :
PubMedSearch : Lohse_1999_J.Lipid.Res_40_221
PubMedID: 9925650
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease - Anderson_1999_Mol.Genet.Metab_68_333
Author(s) : Anderson RA , Bryson GM , Parks JS
Ref : Mol Genet Metab , 68 :333 , 1999
Abstract :
PubMedSearch : Anderson_1999_Mol.Genet.Metab_68_333
PubMedID: 10562460
Gene_locus related to this paper: human-LIPA

Title : Fatal genetic defect causing Wolman disease. -
Author(s) : Mayatepek E , Seedorf U , Wiebusch H , Lenhartz H , Assmann G
Ref : J Inherit Metab Dis , 22 :93 , 1999
PubMedID: 10070628
Gene_locus related to this paper: human-LIPA

Title : Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease - Du_1998_Mol.Genet.Metab_64_126
Author(s) : Du H , Sheriff S , Bezerra J , Leonova T , Grabowski GA
Ref : Mol Genet Metab , 64 :126 , 1998
Abstract :
PubMedSearch : Du_1998_Mol.Genet.Metab_64_126
PubMedID: 9705237

Title : Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals - Ries_1998_Hum.Mutat_12_44
Author(s) : Ries S , Buchler C , Schindler G , Aslanidis C , Ameis D , Gasche C , Jung N , Schambach A , Fehringer P , Vanier MT , Belli DC , Greten H , Schmitz G
Ref : Hum Mutat , 12 :44 , 1998
Abstract :
PubMedSearch : Ries_1998_Hum.Mutat_12_44
PubMedID: 9633819
Gene_locus related to this paper: human-LIPA

Title : A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease - Redonnet-Vernhet_1998_Hum.Mutat_11_335
Author(s) : Redonnet-Vernhet I , Chatelut M , Salvayre R , Levade T
Ref : Hum Mutat , 11 :335 , 1998
Abstract :
PubMedSearch : Redonnet-Vernhet_1998_Hum.Mutat_11_335
PubMedID: 9554751
Gene_locus related to this paper: human-LIPA

Title : Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage - Du_1998_Hum.Mol.Genet_7_1347
Author(s) : Du H , Duanmu M , Witte D , Grabowski GA
Ref : Hum Mol Genet , 7 :1347 , 1998
Abstract :
PubMedSearch : Du_1998_Hum.Mol.Genet_7_1347
PubMedID: 9700186
Gene_locus related to this paper: mouse-1llip

Title : Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase - Redonnet-Vernhet_1997_Biochem.Mol.Med_62_42
Author(s) : Redonnet-Vernhet I , Chatelut M , Basile JP , Salvayre R , Levade T
Ref : Biochemical & Molecular Medicine , 62 :42 , 1997
Abstract :
PubMedSearch : Redonnet-Vernhet_1997_Biochem.Mol.Med_62_42
PubMedID: 9367797
Gene_locus related to this paper: human-LIPA

Title : Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase - Rothe_1997_Atherosclerosis_130_215
Author(s) : Rothe G , Stohr J , Fehringer P , Gasche C , Schmitz G
Ref : Atherosclerosis , 130 :215 , 1997
Abstract :
PubMedSearch : Rothe_1997_Atherosclerosis_130_215
PubMedID: 9126667
Gene_locus related to this paper: human-LIPA

Title : Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease - Pagani_1996_Hum.Mol.Genet_5_1611
Author(s) : Pagani F , Garcia R , Pariyarath R , Stuani C , Gridelli B , Paone G , Baralle FE
Ref : Hum Mol Genet , 5 :1611 , 1996
Abstract :
PubMedSearch : Pagani_1996_Hum.Mol.Genet_5_1611
PubMedID: 8894696
Gene_locus related to this paper: human-LIPA

Title : A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred - Ries_1996_J.Lipid.Res_37_1761
Author(s) : Ries S , Aslanidis C , Fehringer P , Carel JC , Gendrel D , Schmitz G
Ref : J Lipid Res , 37 :1761 , 1996
Abstract :
PubMedSearch : Ries_1996_J.Lipid.Res_37_1761
PubMedID: 8864960
Gene_locus related to this paper: human-LIPA

Title : A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease -
Author(s) : Fujiyama J , Sakuraba H , Kuriyama M , Fujita T , Nagata K , Nakagawa H , Osame M
Ref : Hum Mutat , 8 :377 , 1996
PubMedID: 8956047
Gene_locus related to this paper: human-LIPA

Title : A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations - Muntoni_1996_Hum.Genet_97_265
Author(s) : Muntoni S , Wiebusch H , Funke H , Seedorf U , Roskos M , Schulte H , Saku K , Arakawa K , Balestrieri A , Assmann G
Ref : Hum Genet , 97 :265 , 1996
Abstract :
PubMedSearch : Muntoni_1996_Hum.Genet_97_265
PubMedID: 8566968

Title : Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity - Aslanidis_1996_Genomics_33_85
Author(s) : Aslanidis C , Ries S , Fehringer P , Buchler C , Klima H , Schmitz G
Ref : Genomics , 33 :85 , 1996
Abstract :
PubMedSearch : Aslanidis_1996_Genomics_33_85
PubMedID: 8617513
Gene_locus related to this paper: human-LIPA

Title : A novel variant of lysosomal acid lipase (Leu336-->\;Pro) associated with acid lipase deficiency and cholesterol ester storage disease - Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773
Author(s) : Seedorf U , Wiebusch H , Muntoni S , Christensen NC , Skovby F , Nickel V , Roskos M , Funke H , Ose L , Assmann G
Ref : Arterioscler Thromb Vasc Biol , 15 :773 , 1995
Abstract :
PubMedSearch : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773
PubMedID: 7773732
Gene_locus related to this paper: human-LIPA

Title : Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) - Muntoni_1995_Hum.Genet_95_491
Author(s) : Muntoni S , Wiebusch H , Funke H , Ros E , Seedorf U , Assmann G
Ref : Hum Genet , 95 :491 , 1995
Abstract :
PubMedSearch : Muntoni_1995_Hum.Genet_95_491
PubMedID: 7759067

Title : [Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease] - Tanaka_1995_Nihon.Rinsho_53_3004
Author(s) : Tanaka A
Ref : Nihon Rinsho , 53 :3004 , 1995
Abstract :
PubMedSearch : Tanaka_1995_Nihon.Rinsho_53_3004
PubMedID: 8577049
Gene_locus related to this paper: human-LIPA

Title : Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease - Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718
Author(s) : Anderson RA , Byrum RS , Coates PM , Sando GN
Ref : Proceedings of the National Academy of Sciences of the United States of America , 91 :2718 , 1994
Abstract :
PubMedSearch : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718
PubMedID: 8146180
Gene_locus related to this paper: human-LIPA

Title : A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease - Pagani_1994_Hum.Mol.Genet_3_1605
Author(s) : Pagani F , Zagato L , Merati G , Paone G , Gridelli B , Maier JA
Ref : Hum Mol Genet , 3 :1605 , 1994
Abstract :
PubMedSearch : Pagani_1994_Hum.Mol.Genet_3_1605
PubMedID: 7833918
Gene_locus related to this paper: human-LIPA

Title : Genomic organization of the human lysosomal acid lipase gene (LIPA) - Aslanidis_1994_Genomics_20_329
Author(s) : Aslanidis C , Klima H , Lackner KJ , Schmitz G
Ref : Genomics , 20 :329 , 1994
Abstract :
PubMedSearch : Aslanidis_1994_Genomics_20_329
PubMedID: 8020990

Title : A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease - Klima_1993_J.Clin.Invest_92_2713
Author(s) : Klima H , Ullrich K , Aslanidis C , Fehringer P , Lackner KJ , Schmitz G
Ref : J Clinical Investigation , 92 :2713 , 1993
Abstract :
PubMedSearch : Klima_1993_J.Clin.Invest_92_2713
PubMedID: 8254026
Gene_locus related to this paper: human-LIPA

Title : In situ localization of the genetic locus encoding the lysosomal acid lipase\/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3 -
Author(s) : Anderson RA , Rao N , Byrum RS , Rothschild CB , Bowden DW , Hayworth R , Pettenati M
Ref : Genomics , 15 :245 , 1993
PubMedID: 8432549

Title : Molecular genetics of cholesterol ester hydrolase deficiency. (Abstract) -
Author(s) : Maslen CL , Illingworth DR
Ref : American Journal of Human Genetics , 53 (suppl.) :A926 , 1993
PubMedID:

Title : Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases - Roytta_1992_Clin.Genet_42_1
Author(s) : Roytta M , Fagerlund AS , Toikkanen S , Salmi TT , Jorde LB , Forsius HR , Eriksson AW
Ref : Clin Genet , 42 :1 , 1992
Abstract :
PubMedSearch : Roytta_1992_Clin.Genet_42_1
PubMedID: 1516222

Title : Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin -
Author(s) : Yokoyama S , McCoy E
Ref : J Inherit Metab Dis , 15 :291 , 1992
PubMedID: 1528002

Title : Cloning and expression of cDNA encoding human lysosomal acid lipase\/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases - Anderson_1991_J.Biol.Chem_266_22479
Author(s) : Anderson RA , Sando GN
Ref : Journal of Biological Chemistry , 266 :22479 , 1991
Abstract :
PubMedSearch : Anderson_1991_J.Biol.Chem_266_22479
PubMedID: 1718995
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin - Di Bisceglie_1990_Hepatology_11_764
Author(s) : Di Bisceglie AM , Ishak KG , Rabin L , Hoeg JM
Ref : Hepatology , 11 :764 , 1990
Abstract :
PubMedSearch : Di Bisceglie_1990_Hepatology_11_764
PubMedID: 2347551

Title : Lysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen - Kuriyama_1990_J.Lipid.Res_31_1605
Author(s) : Kuriyama M , Yoshida H , Suzuki M , Fujiyama J , Igata A
Ref : J Lipid Res , 31 :1605 , 1990
Abstract :
PubMedSearch : Kuriyama_1990_J.Lipid.Res_31_1605
PubMedID: 2246613
Gene_locus related to this paper: ratno-1llip

Title : Genetic lipid storage disease with lysosomal acid lipase deficiency in rats. -
Author(s) : Yoshida H , Kuriyama M
Ref : Lab Anim Sci , 40 :486 , 1990
PubMedID:

Title : Cholesteryl ester storage disease: pathologic changes in an affected fetus - Desai_1987_Am.J.Med.Genet_26_689
Author(s) : Desai PK , Astrin KH , Thung SN , Gordon RE , Short MP , Coates PM , Desnick RJ
Ref : American Journal of Medicine Genet , 26 :689 , 1987
Abstract :
PubMedSearch : Desai_1987_Am.J.Med.Genet_26_689
PubMedID: 3565483

Title : Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD) -
Author(s) : Cagle PT , Ferry GD , Beaudet AL , Hawkins EP
Ref : American Journal of Medicine Genet , 24 :711 , 1986
PubMedID: 3740103

Title : Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency - Chatterjee_1986_Clin.Genet_29_360
Author(s) : Chatterjee S , Castiglione E , Kwiterovich PO, Jr. , Hoeg JM , Brewer HB
Ref : Clin Genet , 29 :360 , 1986
Abstract :
PubMedSearch : Chatterjee_1986_Clin.Genet_29_360
PubMedID: 3742843

Title : Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis - Besley_1984_Clin.Genet_26_195
Author(s) : Besley GT , Broadhead DM , Lawlor E , McCann SR , Dempsey JD , Drury MI , Crowe J
Ref : Clin Genet , 26 :195 , 1984
Abstract :
PubMedSearch : Besley_1984_Clin.Genet_26_195
PubMedID: 6478639

Title : Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency - Hoeg_1984_Am.J.Hum.Genet_36_1190
Author(s) : Hoeg JM , Demosky SJ, Jr. , Pescovitz OH , Brewer HB, Jr.
Ref : American Journal of Human Genetics , 36 :1190 , 1984
Abstract :
PubMedSearch : Hoeg_1984_Am.J.Hum.Genet_36_1190
PubMedID: 6097111

Title : Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease - Burton_1981_Am.J.Hum.Genet_33_203
Author(s) : Burton BK , Reed SP
Ref : American Journal of Human Genetics , 33 :203 , 1981
Abstract :
PubMedSearch : Burton_1981_Am.J.Hum.Genet_33_203
PubMedID: 6782865

Title : Prenatal monitoring for Wolman's disease in a pregnancy at risk: first case in the Federal Republic of Germany -
Author(s) : Christomanou H , Cap C
Ref : Hum Genet , 57 :440 , 1981
PubMedID: 7286988

Title : Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19 - Koch_1981_Somatic.Cell.Genet_7_345
Author(s) : Koch G , Lalley PA , McAvoy M , Shows TB
Ref : Somatic Cell Genet , 7 :345 , 1981
Abstract :
PubMedSearch : Koch_1981_Somatic.Cell.Genet_7_345
PubMedID: 7292252

Title : Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification - Schaub_1980_Eur.J.Pediatr_135_45
Author(s) : Schaub J , Janka GE , Christomanou H , Sandhoff K , Permanetter W , Hubner G , Meister P
Ref : Eur J Pediatr , 135 :45 , 1980
Abstract :
PubMedSearch : Schaub_1980_Eur.J.Pediatr_135_45
PubMedID: 7449788

Title : Wolman's disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems - Byrd_1979_Acta.Neuropathol_45_37
Author(s) : Byrd JC, 3rd , Powers JM
Ref : Acta Neuropathologica , 45 :37 , 1979
Abstract :
PubMedSearch : Byrd_1979_Acta.Neuropathol_45_37
PubMedID: 216225

Title : Assignment of lipase A (LIPA) to human chromosome 10. (Abstract) -
Author(s) : Koch GA , McAvoy M , Naylor SL , Byers MG , Haley LL , Eddy RL , Brown JA , Shows TB
Ref : Cytogenet Cell Genet , 25 :174 , 1979
PubMedID:

Title : Prenatal diagnosis of Wolman disease - Coates_1978_Am.J.Med.Genet_2_397
Author(s) : Coates PM , Cortner JA , Mennuti MT , Wheeler JE
Ref : American Journal of Medicine Genet , 2 :397 , 1978
Abstract :
PubMedSearch : Coates_1978_Am.J.Med.Genet_2_397
PubMedID: 122435

Title : Cholesterol ester storage disease: clinical, biochemical, and pathological studies - Beaudet_1977_J.Pediatr_90_910
Author(s) : Beaudet AL , Ferry GD , Nichols BL, Jr. , Rosenberg HS
Ref : J Pediatr , 90 :910 , 1977
Abstract :
PubMedSearch : Beaudet_1977_J.Pediatr_90_910
PubMedID: 859064

Title : Genetic variation of lysosomal acid lipase - Cortner_1976_Pediatr.Res_10_927
Author(s) : Cortner JA , Coates PM , Swoboda E , Schnatz JD
Ref : Pediatr Res , 10 :927 , 1976
Abstract :
PubMedSearch : Cortner_1976_Pediatr.Res_10_927
PubMedID: 10546
Gene_locus related to this paper: human-LIPA

Title : Enzyme deficiency in cholesteryl ester storage idisease - Sloan_1972_J.Clin.Invest_51_1923
Author(s) : Sloan HR , Fredrickson DS
Ref : J Clinical Investigation , 51 :1923 , 1972
Abstract :
PubMedSearch : Sloan_1972_J.Clin.Invest_51_1923
PubMedID: 5032533

Title : Histochemical detection of the enzyme deficiency in blood films in Wolman's disease - Lake_1971_J.Clin.Pathol_24_617
Author(s) : Lake BD
Ref : Journal of Clinical Pathology , 24 :617 , 1971
Abstract :
PubMedSearch : Lake_1971_J.Clin.Pathol_24_617
PubMedID: 5118828

Title : Deficiency of acid esterase activity in Wolman's disease -
Author(s) : Young EP , Patrick AD
Ref : Arch Dis Child , 45 :664 , 1970
PubMedID: 5477680

Title : Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes -
Author(s) : Lake BD , Patrick AD
Ref : J Pediatr , 76 :262 , 1970
PubMedID: 5410174

Title : Wolman's disease. An electron microscopic, histochemical, and biochemical study -
Author(s) : Lough J , Fawcett J , Wiegensberg B
Ref : Arch Pathol , 89 :103 , 1970
PubMedID: 5412920

Title : Wolman's disease. A rare lipidosis with adrenal calcification -
Author(s) : Marshall WC , Ockenden BG , Fosbrooke AS , Cumings JN
Ref : Arch Dis Child , 44 :331 , 1969
PubMedID: 5785183

Title : Deficiency of an acid lipase in Wolman's disease -
Author(s) : Patrick AD , Lake BD
Ref : Nature , 222 :1067 , 1969
PubMedID: 5787090

Title : Primary familial xanthomatosis with adrenal involvement (Wolman's disease). Report of a further case with nervous system involvement and pathogenetic considerations -
Author(s) : Kahana D , Berant M , Wolman M
Ref : Pediatrics , 42 :70 , 1968
PubMedID: 5657698

Title : Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects -
Author(s) : Schiff L , Schubert WK , McAdams AJ , Spiegel EL , O'Donnell JF
Ref : American Journal of Medicine , 44 :538 , 1968
PubMedID: 5642714

Title : Hematologic studies in Niemann-Pick and Wolman's disease (cytology and electrophoresis). -
Author(s) : Spiegel-Adolf M , Baird HW , McCafferty M
Ref : Confin Neurol , 28 :399 , 1966
PubMedID:

Title : Wolman's disease: the first case in Japan -
Author(s) : Konno T , Fujii M , Watanuki T , Koizumi K
Ref : Tohoku J Exp Med , 90 :375 , 1966
PubMedID: 5972796

Title : Wolman's disease: three new patients with a recently described lipidosis -
Author(s) : Crocker AC , Vawter GF , Neuhauser EB , Rosowsky A
Ref : Pediatrics , 35 :627 , 1965
PubMedID: 14269714

Title : Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant -
Author(s) : Wolman M , Sterk VV , Gatt S , Frenkel M
Ref : Pediatrics , 28 :742 , 1961
PubMedID: 14008104