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 : human-LIPA
Mutation : 67 mutations H295Y_human-LIPA IVS9+2T>G_human-LIPA L264P_human-LIPA V203L_human-LIPA Q85K_human-LIPA N98K_human-LIPA IVS3+1G>A_human-LIPA IVS3+3A>C_human-LIPA W140X_human-LIPA A199CfsX12_human-LIPA R218X_human-LIPA G77fsX5_human-LIPA F228LfsX12_human-LIPA G343VfsX14_human-LIPA V124FfsX3_human-LIPA I41LfsX4_human-LIPA G342W_human-LIPA G342R_human-LIPA G266X_human-LIPA R65X_human-LIPA S133X_human-LIPA Q298H_human-LIPA H86Y_human-LIPA D352del_human-LIPA S127X_human-LIPA G23R_human-LIPA F139IfsX7_human-LIPA Y324X_human-LIPA T288I_human-LIPA Q85R_human-LIPA L294S_human-LIPA G87V_human-LIPA L357P_human-LIPA D345N_human-LIPA S275_Q298del_human-LIPA S275_Q298delX_human-LIPA W116X_human-LIPA V134FX3__human-LIPA T327NfsX3_human-LIPA S289C_human-LIPA N119S_human-LIPA H129P_human-LIPA H129R_human-LIPA L200P_human-LIPA Y43X_human-LIPA Q87V_human-LIPA W95R_human-LIPA R127W_human-LIPA D145E_human-LIPA P202L_human-LIPA R276K_human-LIPA N161IfsX19_human-LIPA E9E10del_human-LIPA S120R_human-LIPA Y51X_human-LIPA W130X_human-LIPA S112X_human-LIPA W289X_human-LIPA 112kbdel_human-LIPA F22LfsX13_human-LIPA G287E_human-LIPA S284F_human-LIPA H374Q_human-LIPA W310R_human-LIPA I391S_human-LIPA G118D_human-LIPA L200L_human-LIPA
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| Title : Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier - Zhang_2024_Dig.Dis.Sci__ |
| Author(s) : Zhang JH , Lin AP , Zhang L , Ruan DD , Gao MZ , Chen Q , Yu HP , Liao LS , Lin XF , Fang ZT , Lin F , Lu SY , Luo JW , Zheng XL , Chen MS |
| Ref : Digestive Diseases & Sciences , : , 2024 |
| Abstract : Zhang_2024_Dig.Dis.Sci__ |
| ESTHER : Zhang_2024_Dig.Dis.Sci__ |
| PubMedSearch : Zhang_2024_Dig.Dis.Sci__ |
| PubMedID: 38564148 |
| Gene_locus related to this paper: human-LIPA |
| Title : Characterization of lysosomal acid lipase in Ly6G(+) and CD11c(+) myeloid-derived suppressor cells - Zhao_2024_Methods.Cell.Biol_184_119 |
| Author(s) : Zhao T , Du H , Yan C |
| Ref : Methods Cell Biol , 184 :119 , 2024 |
| Abstract : Zhao_2024_Methods.Cell.Biol_184_119 |
| ESTHER : Zhao_2024_Methods.Cell.Biol_184_119 |
| PubMedSearch : Zhao_2024_Methods.Cell.Biol_184_119 |
| PubMedID: 38555152 |
| Gene_locus related to this paper: human-LIPA |
| Title : High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease - Eskandari_2024_N.Engl.J.Med_390_623 |
| Author(s) : Eskandari SK , Revenich EGM , Pot DJ , de Boer F , Bierings M , van Spronsen FJ , van Hasselt PM , Lindemans CA , Lubout CMA |
| Ref : N Engl J Med , 390 :623 , 2024 |
| Abstract : Eskandari_2024_N.Engl.J.Med_390_623 |
| ESTHER : Eskandari_2024_N.Engl.J.Med_390_623 |
| PubMedSearch : Eskandari_2024_N.Engl.J.Med_390_623 |
| PubMedID: 38354141 |
| Gene_locus related to this paper: human-LIPA |
| Title : First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease - Elaraby_2023_J.Mol.Neurosci__ |
| Author(s) : Elaraby NM , Galal ER , Abdel-Hamid M , Elbendary HM , Elbadry M , Mekkawy MK , Ashaat NA , Mounir SM , Ashaat EA |
| Ref : Journal of Molecular Neuroscience , : , 2023 |
| Abstract : Elaraby_2023_J.Mol.Neurosci__ |
| ESTHER : Elaraby_2023_J.Mol.Neurosci__ |
| PubMedSearch : Elaraby_2023_J.Mol.Neurosci__ |
| PubMedID: 37470904 |
| Gene_locus related to this paper: human-LIPA |
| Title : Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia - Sheth_2023_JACC.Case.Rep_24_102023 |
| Author(s) : Sheth S , Toth PP , Baum SJ , Aggarwal M |
| Ref : JACC Case Rep , 24 :102023 , 2023 |
| Abstract : Sheth_2023_JACC.Case.Rep_24_102023 |
| ESTHER : Sheth_2023_JACC.Case.Rep_24_102023 |
| PubMedSearch : Sheth_2023_JACC.Case.Rep_24_102023 |
| PubMedID: 37869222 |
| Title : A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant - Anushiravani_2023_Arch.Iran.Med_26_86 |
| Author(s) : Anushiravani A , Jafari Khamirani H , Mohamadkhani A , Mani A , Dianatpour M , Malekzadeh R |
| Ref : Arch Iran Med , 26 :86 , 2023 |
| Abstract : Anushiravani_2023_Arch.Iran.Med_26_86 |
| ESTHER : Anushiravani_2023_Arch.Iran.Med_26_86 |
| PubMedSearch : Anushiravani_2023_Arch.Iran.Med_26_86 |
| PubMedID: 37543928 |
| Gene_locus related to this paper: human-LIPA |
| Title : Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice - Akhmetshina_2023_Mol.Metab__101869 |
| Author(s) : Akhmetshina A , Bianco V , Bradic I , Korbelius M , Pirchheim A , Kuentzel KB , Eichmann TO , Hinteregger H , Kolb D , Habisch H , Liesinger L , Madl T , Sattler W , Radovic B , Sedej S , Birner-Gruenberger R , Vujic N , Kratky D |
| Ref : Mol Metab , :101869 , 2023 |
| Abstract : Akhmetshina_2023_Mol.Metab__101869 |
| ESTHER : Akhmetshina_2023_Mol.Metab__101869 |
| PubMedSearch : Akhmetshina_2023_Mol.Metab__101869 |
| PubMedID: 38160938 |
| Gene_locus related to this paper: human-LIPA , mouse-1llip |
| Title : Recent insights into lysosomal acid lipase deficiency - Korbelius_2023_Trends.Mol.Med__ |
| Author(s) : Korbelius M , Kuentzel KB , Bradic I , Vujic N , Kratky D |
| Ref : Trends Mol Med , : , 2023 |
| Abstract : Korbelius_2023_Trends.Mol.Med__ |
| ESTHER : Korbelius_2023_Trends.Mol.Med__ |
| PubMedSearch : Korbelius_2023_Trends.Mol.Med__ |
| PubMedID: 37028992 |
| Gene_locus related to this paper: human-LIPA |
| Title : Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature - Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| Author(s) : Asna Ashari K , Azari-Yam A , Shahrooei M , Ziaee V |
| Ref : J Med Case Rep , 17 :369 , 2023 |
| Abstract : Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| ESTHER : Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| PubMedSearch : Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| PubMedID: 37641143 |
| Gene_locus related to this paper: human-LIPA |
| Title : Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders - |
| Author(s) : Westerterp M , Li F , Zhang H |
| Ref : J Lipid Res , 64 :100474 , 2023 |
| PubMedID: 37972729 |
| Gene_locus related to this paper: human-LIPA |
| Title : Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles - Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| Author(s) : Jackson J , Farajzadeh J , Turner R , Yukutake K , Baghdasaryan E , Denis ES , Barseghyan T , Herrera P , Begaj S , Pietruszka M , Valles-Ayoub Y |
| Ref : Genet Test Mol Biomarkers , 27 :319 , 2023 |
| Abstract : Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| ESTHER : Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| PubMedSearch : Jackson_2023_Genet.Test.Mol.Biomarkers_27_319 |
| PubMedID: 37903030 |
| Gene_locus related to this paper: human-LIPA |
| Title : Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party - |
| Author(s) : Lum SH , Minkov M , Jones SA , Hazelaar S , Sirait T , Potter JE , Stepensky P , Garban F , Pichler H , Stein J , Kaya Z , Schulz A , Mellgren K , Diaz de Heredia C , Pochon C , Riesco S , Diaz MA , Michel G , Lindemans C , Gruhn B , Albert MH , Lankester AC , Neven B , Wynn R |
| Ref : Bone Marrow Transplant , : , 2023 |
| PubMedID: 36788366 |
| Gene_locus related to this paper: human-LIPA |
| Title : [A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation] - Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| Author(s) : Xiao ZJ , Liu SX , Zou B , Cheng HH , Xu H , Huang ZH , Shu SN |
| Ref : Zhonghua Er Ke Za Zhi , 60 :360 , 2022 |
| Abstract : Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| ESTHER : Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| PubMedSearch : Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| PubMedID: 35385947 |
| Gene_locus related to this paper: human-LIPA |
| Title : Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis - Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| Author(s) : Baronio F , Conti F , Miniaci A , Carfagnini F , Di Natale V , Di Donato G , Testi M , Totaro C , De Fanti A , Boenzi S , Dionisi-Vici C , Esposito S , Pession A |
| Ref : Mol Genet Metab Rep , 30 :100833 , 2022 |
| Abstract : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| ESTHER : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| PubMedSearch : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| PubMedID: 35242567 |
| Gene_locus related to this paper: human-LIPA |
| Title : A Novel Variant in the LIPA Gene Associated with Distinct Phenotype - Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| Author(s) : Sarajlija A , Armengol L , Maver A , Kitic I , Prokic D , Cehic M , Djuricic MS , Peterlin B |
| Ref : Balkan Journal of Medical Genetics , 25 :93 , 2022 |
| Abstract : Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| ESTHER : Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| PubMedSearch : Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| PubMedID: 36880034 |
| Gene_locus related to this paper: human-LIPA |
| Title : Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency - Lam_2022_Mol.Ther.Methods.Clin.Dev_26_413 |
| Author(s) : Lam P , Ashbrook A , Zygmunt DA , Yan C , Du H , Martin PT |
| Ref : Mol Ther Methods Clin Dev , 26 :413 , 2022 |
| Abstract : Lam_2022_Mol.Ther.Methods.Clin.Dev_26_413 |
| ESTHER : Lam_2022_Mol.Ther.Methods.Clin.Dev_26_413 |
| PubMedSearch : Lam_2022_Mol.Ther.Methods.Clin.Dev_26_413 |
| PubMedID: 36092360 |
| Gene_locus related to this paper: mouse-1llip , human-LIPA |
| Title : Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency\/Wolman disease patient: Infancy to age five - Cossette_2022_Can.Liver.J_5_428 |
| Author(s) : Cossette A , Castilloux J , Bouffard C , Laflamme J , Faure C , Benlamlih S , Abel F , Beecroft M , Francis M , Drouin R |
| Ref : Can Liver J , 5 :428 , 2022 |
| Abstract : Cossette_2022_Can.Liver.J_5_428 |
| ESTHER : Cossette_2022_Can.Liver.J_5_428 |
| PubMedSearch : Cossette_2022_Can.Liver.J_5_428 |
| PubMedID: 36133901 |
| Gene_locus related to this paper: human-LIPA |
| Title : 15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report - Cunha-Silva_2022_Medicine.(Baltimore)_101_e30315 |
| Author(s) : Cunha-Silva M , de Franca EVC , Veiga CT , Greca RD , de Moraes PBS , de Campos Mazo DF , de Ataide EC , Perales SR , Monici LT , Seva-Pereira T |
| Ref : Medicine (Baltimore) , 101 :e30315 , 2022 |
| Abstract : Cunha-Silva_2022_Medicine.(Baltimore)_101_e30315 |
| ESTHER : Cunha-Silva_2022_Medicine.(Baltimore)_101_e30315 |
| PubMedSearch : Cunha-Silva_2022_Medicine.(Baltimore)_101_e30315 |
| PubMedID: 36107601 |
| Gene_locus related to this paper: human-LIPA |
| Title : Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program - Sustar_2022_Front.Genet_13_936121 |
| Author(s) : Sustar U , Groselj U , Trebusak Podkrajsek K , Mlinaric M , Kovac J , Thaler M , Drole Torkar A , Skarlovnik A , Battelino T , Hovnik T |
| Ref : Front Genet , 13 :936121 , 2022 |
| Abstract : Sustar_2022_Front.Genet_13_936121 |
| ESTHER : Sustar_2022_Front.Genet_13_936121 |
| PubMedSearch : Sustar_2022_Front.Genet_13_936121 |
| PubMedID: 35903350 |
| Gene_locus related to this paper: human-LIPA |
| Title : A systematic review of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases - Katsigianni_2022_Cost.Eff.Resour.Alloc_20_51 |
| Author(s) : Katsigianni EI , Petrou P |
| Ref : Cost Eff Resour Alloc , 20 :51 , 2022 |
| Abstract : Katsigianni_2022_Cost.Eff.Resour.Alloc_20_51 |
| ESTHER : Katsigianni_2022_Cost.Eff.Resour.Alloc_20_51 |
| PubMedSearch : Katsigianni_2022_Cost.Eff.Resour.Alloc_20_51 |
| PubMedID: 36123734 |
| Title : Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study - Mashima_2022_Int.J.Mol.Sci_23_ |
| Author(s) : Mashima R , Takada S |
| Ref : Int J Mol Sci , 23 : , 2022 |
| Abstract : Mashima_2022_Int.J.Mol.Sci_23_ |
| ESTHER : Mashima_2022_Int.J.Mol.Sci_23_ |
| PubMedSearch : Mashima_2022_Int.J.Mol.Sci_23_ |
| PubMedID: 36555187 |
| Gene_locus related to this paper: human-LIPA |
| Title : Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review - Alabbas_2021_BMC.Pediatr_21_72 |
| Author(s) : Alabbas F , Elyamany G , Alanzi T , Ali TB , Albatniji F , Alfaraidi H |
| Ref : BMC Pediatr , 21 :72 , 2021 |
| Abstract : Alabbas_2021_BMC.Pediatr_21_72 |
| ESTHER : Alabbas_2021_BMC.Pediatr_21_72 |
| PubMedSearch : Alabbas_2021_BMC.Pediatr_21_72 |
| PubMedID: 33568092 |
| Gene_locus related to this paper: human-LIPA |
| Title : A rare case of lysosomal acid lipase deficiency diagnosed by endoscopy - |
| Author(s) : Torres LD , Bonilha DQ , Diaz RG , de Carvalho RB , Montes CG |
| Ref : Gastrointest Endosc , : , 2021 |
| PubMedID: 34922935 |
| 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 |
| Author(s) : Lipinski P , Cielecka-Kuszyk J , Bozkiewicz-Kasperczyk A , Perkowska B , Jurkiewicz E , Tylki-Szymanska A |
| Ref : Mol Genet Metab Rep , 23 :100594 , 2020 |
| Abstract : Lipinski_2020_Mol.Genet.Metab.Rep_23_100594 |
| ESTHER : Lipinski_2020_Mol.Genet.Metab.Rep_23_100594 |
| PubMedSearch : Lipinski_2020_Mol.Genet.Metab.Rep_23_100594 |
| PubMedID: 32382506 |
| 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 |
| Author(s) : Rashu EB , Junker AE , Danielsen KV , Dahl E , Hamberg O , Borgwardt L , Christensen VB , Wewer Albrechtsen NJ , Gluud LL |
| Ref : World J Clin Cases , 8 :1642 , 2020 |
| Abstract : Rashu_2020_World.J.Clin.Cases_8_1642 |
| ESTHER : Rashu_2020_World.J.Clin.Cases_8_1642 |
| PubMedSearch : Rashu_2020_World.J.Clin.Cases_8_1642 |
| PubMedID: 32432142 |
| 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 |
| Author(s) : Cappuccio G , Donti TR , Hubert L , Sun Q , Elsea SH |
| Ref : J Inherit Metab Dis , 42 :509 , 2019 |
| Abstract : Cappuccio_2019_J.Inherit.Metab.Dis_42_509 |
| ESTHER : Cappuccio_2019_J.Inherit.Metab.Dis_42_509 |
| PubMedSearch : Cappuccio_2019_J.Inherit.Metab.Dis_42_509 |
| PubMedID: 30684275 |
| 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 |
| Author(s) : Bychkov IO , Kamenets EA , Filatova AY , Skoblov MY , Mikhaylova SV , Strokova TV , Gundobina OS , Zakharova EY |
| Ref : Mol Genet Metab , 127 :212 , 2019 |
| Abstract : Bychkov_2019_Mol.Genet.Metab_127_212 |
| ESTHER : Bychkov_2019_Mol.Genet.Metab_127_212 |
| PubMedSearch : Bychkov_2019_Mol.Genet.Metab_127_212 |
| PubMedID: 31230978 |
| Gene_locus related to this paper: human-LIPA |
| Title : A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis - Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| Author(s) : Tinsa F , Ben Romdhane M , Boudabous H , Bel Hadj I , Brini I , Tebib N , Louati H , Bekri S , Boussetta K |
| Ref : J Pediatr Hematol Oncol , 41 :e193 , 2019 |
| Abstract : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| ESTHER : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| PubMedSearch : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| PubMedID: 29702543 |
| 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 |
| Author(s) : Leopold C , Duta-Mare M , Sachdev V , Goeritzer M , Maresch LK , Kolb D , Reicher H , Wagner B , Stojakovic T , Ruelicke T , Haemmerle G , Hoefler G , Sattler W , Kratky D |
| Ref : Biochimica & Biophysica Acta Molecular & Cellular Biology Lipids , 1864 :500 , 2019 |
| Abstract : Leopold_2019_Biochim.Biophys.Acta.Mol.Cell.Biol.Lipids_1864_500 |
| ESTHER : Leopold_2019_Biochim.Biophys.Acta.Mol.Cell.Biol.Lipids_1864_500 |
| PubMedSearch : Leopold_2019_Biochim.Biophys.Acta.Mol.Cell.Biol.Lipids_1864_500 |
| PubMedID: 30639734 |
| Gene_locus related to this paper: mouse-1llip |
| Title : Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency - Del Angel_2019_Hum.Mutat_40_2007 |
| Author(s) : Del Angel G , Hutchinson AT , Jain NK , Forbes CD , Reynders J |
| Ref : Hum Mutat , 40 :2007 , 2019 |
| Abstract : Del Angel_2019_Hum.Mutat_40_2007 |
| ESTHER : Del Angel_2019_Hum.Mutat_40_2007 |
| PubMedSearch : Del Angel_2019_Hum.Mutat_40_2007 |
| PubMedID: 31180157 |
| 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 |
| Author(s) : Vinje T , Laerdahl JK , Bjune K , Leren TP , Strom TB |
| Ref : Hum Mol Genet , 28 :3043 , 2019 |
| Abstract : Vinje_2019_Hum.Mol.Genet_28_3043 |
| ESTHER : Vinje_2019_Hum.Mol.Genet_28_3043 |
| PubMedSearch : Vinje_2019_Hum.Mol.Genet_28_3043 |
| PubMedID: 31131398 |
| Gene_locus related to this paper: human-LIPA |
| Title : Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency - Wilson_2018_J.Clin.Lipidol_12_604 |
| Author(s) : Wilson DP , Friedman M , Marulkar S , Hamby T , Bruckert E |
| Ref : J Clin Lipidol , 12 :604 , 2018 |
| Abstract : Wilson_2018_J.Clin.Lipidol_12_604 |
| ESTHER : Wilson_2018_J.Clin.Lipidol_12_604 |
| PubMedSearch : Wilson_2018_J.Clin.Lipidol_12_604 |
| PubMedID: 29628368 |
| Gene_locus related to this paper: human-LIPA |
| Title : Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa - Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| Author(s) : Santos Silva E , Klaudel-Dreszler M , Bakula A , Oliva T , Sousa T , Fernandes PC , Tylki-Szymanska A , Kamenets E , Martins E , Socha P |
| Ref : Clin Res Hepatol Gastroenterol , 42 :e77 , 2018 |
| Abstract : Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| ESTHER : Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| PubMedSearch : Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| PubMedID: 29705274 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan - Ikari_2018_J.Nippon.Med.Sch_85_131 |
| Author(s) : Ikari N , Shimizu A , Asano T |
| Ref : J Nippon Med Sch , 85 :131 , 2018 |
| Abstract : Ikari_2018_J.Nippon.Med.Sch_85_131 |
| ESTHER : Ikari_2018_J.Nippon.Med.Sch_85_131 |
| PubMedSearch : Ikari_2018_J.Nippon.Med.Sch_85_131 |
| PubMedID: 29731497 |
| Gene_locus related to this paper: human-LIPA |
| Title : Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene - Vinje_2018_Mol.Genet.Metab_123_169 |
| Author(s) : Vinje T , Wierod L , Leren TP , Strom TB |
| Ref : Mol Genet Metab , 123 :169 , 2018 |
| Abstract : Vinje_2018_Mol.Genet.Metab_123_169 |
| ESTHER : Vinje_2018_Mol.Genet.Metab_123_169 |
| PubMedSearch : Vinje_2018_Mol.Genet.Metab_123_169 |
| PubMedID: 29196158 |
| 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 |
| Ref : Clinica Chimica Acta , 471 :201 , 2017 |
| Abstract : Lukacs_2017_Clin.Chim.Acta_471_201 |
| ESTHER : Lukacs_2017_Clin.Chim.Acta_471_201 |
| PubMedSearch : Lukacs_2017_Clin.Chim.Acta_471_201 |
| PubMedID: 28532785 |
| Gene_locus related to this paper: human-LIPA |
| Title : Cholesteryl Ester Storage Disease: An underdiagnosed cause of cirrhosis in adults - Pant_2017_Ann.Diagn.Pathol_31_66 |
| Author(s) : Pant M , Oshima K |
| Ref : Ann Diagn Pathol , 31 :66 , 2017 |
| Abstract : Pant_2017_Ann.Diagn.Pathol_31_66 |
| ESTHER : Pant_2017_Ann.Diagn.Pathol_31_66 |
| PubMedSearch : Pant_2017_Ann.Diagn.Pathol_31_66 |
| PubMedID: 28318950 |
| Gene_locus related to this paper: human-LIPA |
| 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 |
| Author(s) : Jones SA , Rojas-Caro S , Quinn AG , Friedman M , Marulkar S , Ezgu F , Zaki O , Gargus JJ , Hughes J , Plantaz D , Vara R , Eckert S , Arnoux JB , Brassier A , Le Quan Sang KH , Valayannopoulos V |
| Ref : Orphanet J Rare Dis , 12 :25 , 2017 |
| Abstract : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
| ESTHER : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
| PubMedSearch : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
| PubMedID: 28179030 |
| 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 |
| Author(s) : Bay L , Canero Velasco C , Ciocca M , Cotti A , Cuarterolo M , Fainboim A , Fassio E , Galoppo M , Pinero F , Rozenfeld P |
| Ref : Arch Argent Pediatr , 115 :287 , 2017 |
| Abstract : Bay_2017_Arch.Argent.Pediatr_115_287 |
| ESTHER : Bay_2017_Arch.Argent.Pediatr_115_287 |
| PubMedSearch : Bay_2017_Arch.Argent.Pediatr_115_287 |
| PubMedID: 28504497 |
| Title : The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency - Erwin_2017_Therap.Adv.Gastroenterol_10_553 |
| Author(s) : Erwin AL |
| Ref : Therap Adv Gastroenterol , 10 :553 , 2017 |
| Abstract : Erwin_2017_Therap.Adv.Gastroenterol_10_553 |
| ESTHER : Erwin_2017_Therap.Adv.Gastroenterol_10_553 |
| PubMedSearch : Erwin_2017_Therap.Adv.Gastroenterol_10_553 |
| PubMedID: 28804516 |
| 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 |
| Author(s) : Chora JR , Alves AC , Medeiros AM , Mariano C , Lobarinhas G , Guerra A , Mansilha H , Cortez-Pinto H , Bourbon M |
| Ref : J Clin Lipidol , 11 :477 , 2017 |
| Abstract : Chora_2017_J.Clin.Lipidol_11_477 |
| ESTHER : Chora_2017_J.Clin.Lipidol_11_477 |
| PubMedSearch : Chora_2017_J.Clin.Lipidol_11_477 |
| PubMedID: 28502505 |
| 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 |
| Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 265 :124 , 2017 |
| Abstract : Pisciotta_2017_Atherosclerosis_265_124 |
| ESTHER : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124 |
| PubMedID: 28881270 |
| 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 |
| Ref : Int J Mol Sci , 18 : , 2017 |
| Abstract : Tovoli_2017_Int.J.Mol.Sci_18_ |
| ESTHER : Tovoli_2017_Int.J.Mol.Sci_18_ |
| PubMedSearch : Tovoli_2017_Int.J.Mol.Sci_18_ |
| PubMedID: 28587063 |
| Gene_locus related to this paper: human-LIPA |
| Title : Childhood\/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases - Poinsot_2017_J.Clin.Lipidol_11_167 |
| Author(s) : Poinsot P , Collardeau Frachon S , Restier L , Serusclat A , Di Filippo M , Charriere S , Moulin P , Lachaux A , Peretti N |
| Ref : J Clin Lipidol , 11 :167 , 2017 |
| Abstract : Poinsot_2017_J.Clin.Lipidol_11_167 |
| ESTHER : Poinsot_2017_J.Clin.Lipidol_11_167 |
| PubMedSearch : Poinsot_2017_J.Clin.Lipidol_11_167 |
| PubMedID: 28391883 |
| 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 |
| Author(s) : Elsayed S , Elsobky E , Tantawy A , Ragab E , Gil M , Lambert N , de Saint Basile G |
| Ref : Egyptian J Med Hum Genet , 17 :277 , 2016 |
| Abstract : Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277 |
| ESTHER : Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277 |
| PubMedSearch : Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277 |
| PubMedID: |
| Gene_locus related to this paper: human-LIPA |
| Title : Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency - Frampton_2016_Am.J.Cardiovasc.Drugs_16_461 |
| Author(s) : Frampton JE |
| Ref : Am J Cardiovasc Drugs , 16 :461 , 2016 |
| Abstract : Frampton_2016_Am.J.Cardiovasc.Drugs_16_461 |
| ESTHER : Frampton_2016_Am.J.Cardiovasc.Drugs_16_461 |
| PubMedSearch : Frampton_2016_Am.J.Cardiovasc.Drugs_16_461 |
| PubMedID: 27878737 |
| 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 |
| Author(s) : Paton DM |
| Ref : Drugs Today (Barc) , 52 :287 , 2016 |
| Abstract : Paton_2016_Drugs.Today.(Barc)_52_287 |
| ESTHER : Paton_2016_Drugs.Today.(Barc)_52_287 |
| PubMedSearch : Paton_2016_Drugs.Today.(Barc)_52_287 |
| PubMedID: 27376161 |
| 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 : Su_2016_Appl.Clin.Genet_9_157 |
| ESTHER : Su_2016_Appl.Clin.Genet_9_157 |
| PubMedSearch : Su_2016_Appl.Clin.Genet_9_157 |
| PubMedID: 27799810 |
| 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 |
| Author(s) : Kuranobu N , Murakami J , Okamoto K , Nishimura R , Murayama K , Takamura A , Umeda T , Eto Y , Kanzaki S |
| Ref : Hepatol Res , 46 :477 , 2016 |
| Abstract : Kuranobu_2016_Hepatol.Res_46_477 |
| ESTHER : Kuranobu_2016_Hepatol.Res_46_477 |
| PubMedSearch : Kuranobu_2016_Hepatol.Res_46_477 |
| PubMedID: 26385844 |
| 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 : Santillan-Hernandez_2015_World.J.Gastroenterol_21_1001 |
| ESTHER : Santillan-Hernandez_2015_World.J.Gastroenterol_21_1001 |
| PubMedSearch : Santillan-Hernandez_2015_World.J.Gastroenterol_21_1001 |
| PubMedID: 25624737 |
| 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 : Pullinger_2015_J.Clin.Lipidol_9_716 |
| ESTHER : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedSearch : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedID: 26350820 |
| 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 : Shirley_2015_Drugs_75_1935 |
| ESTHER : Shirley_2015_Drugs_75_1935 |
| PubMedSearch : Shirley_2015_Drugs_75_1935 |
| PubMedID: 26452566 |
| 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 : 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 : Burton_2015_N.Engl.J.Med_373_1010 |
| ESTHER : Burton_2015_N.Engl.J.Med_373_1010 |
| PubMedSearch : Burton_2015_N.Engl.J.Med_373_1010 |
| PubMedID: 26352813 |
| 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 : Civallero_2014_Gene_539_154 |
| ESTHER : Civallero_2014_Gene_539_154 |
| 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 : Dairaku_2014_Mol.Genet.Metab_111_193 |
| ESTHER : Dairaku_2014_Mol.Genet.Metab_111_193 |
| PubMedSearch : Dairaku_2014_Mol.Genet.Metab_111_193 |
| PubMedID: 24295952 |
| 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 : Valayannopoulos_2014_J.Hepatol_61_1135 |
| ESTHER : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedSearch : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedID: 24993530 |
| 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 : Reiner_2014_Atherosclerosis_235_21 |
| ESTHER : Reiner_2014_Atherosclerosis_235_21 |
| PubMedSearch : Reiner_2014_Atherosclerosis_235_21 |
| PubMedID: 24792990 |
| 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 : Bernstein_2013_J.Hepatol_58_1230 |
| ESTHER : Bernstein_2013_J.Hepatol_58_1230 |
| 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 : Kojima_2013_Hepatol.Res_43_1361 |
| ESTHER : Kojima_2013_Hepatol.Res_43_1361 |
| PubMedSearch : Kojima_2013_Hepatol.Res_43_1361 |
| PubMedID: 23675960 |
| 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 : Fasano_2012_Mol.Genet.Metab_105_450 |
| ESTHER : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedSearch : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedID: 22227072 |
| 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 : Hamilton_2012_Clin.Chim.Acta_413_1207 |
| ESTHER : Hamilton_2012_Clin.Chim.Acta_413_1207 |
| PubMedSearch : Hamilton_2012_Clin.Chim.Acta_413_1207 |
| PubMedID: 22483793 |
| 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 : Huang_2012_Zhonghua.Er.Ke.Za.Zhi_50_601 |
| ESTHER : Huang_2012_Zhonghua.Er.Ke.Za.Zhi_50_601 |
| 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 : Saito_2012_Mol.Genet.Metab_105_244 |
| ESTHER : Saito_2012_Mol.Genet.Metab_105_244 |
| PubMedSearch : Saito_2012_Mol.Genet.Metab_105_244 |
| PubMedID: 22138108 |
| 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 : Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| ESTHER : Valles-Ayoub_2011_Genet.Test.Mol.Biomarkers_15_395 |
| 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 : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| ESTHER : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedSearch : Pisciotta_2009_Mol.Genet.Metab_97_143 |
| PubMedID: 19307143 |
| 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 : Du_2008_J.Lipid.Res_49_1646 |
| ESTHER : Du_2008_J.Lipid.Res_49_1646 |
| PubMedSearch : Du_2008_J.Lipid.Res_49_1646 |
| PubMedID: 18413899 |
| Gene_locus related to this paper: mouse-1llip |
| 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 : Hooper_2008_Clin.Chim.Acta_398_152 |
| ESTHER : Hooper_2008_Clin.Chim.Acta_398_152 |
| PubMedSearch : Hooper_2008_Clin.Chim.Acta_398_152 |
| PubMedID: 18775687 |
| Gene_locus related to this paper: human-LIPA |
| 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 : Drebber_2005_World.J.Gastroenterol_11_2364 |
| ESTHER : Drebber_2005_World.J.Gastroenterol_11_2364 |
| 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 : Du_2002_Hum.Gene.Ther_13_1361 |
| ESTHER : Du_2002_Hum.Gene.Ther_13_1361 |
| PubMedSearch : Du_2002_Hum.Gene.Ther_13_1361 |
| PubMedID: 12162818 |
| 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 : Tietge_2001_Hum.Gene.Ther_12_279 |
| ESTHER : Tietge_2001_Hum.Gene.Ther_12_279 |
| PubMedSearch : Tietge_2001_Hum.Gene.Ther_12_279 |
| PubMedID: 11177564 |
| 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 : Du_2001_Hum.Mol.Genet_10_1639 |
| ESTHER : Du_2001_Hum.Mol.Genet_10_1639 |
| PubMedSearch : Du_2001_Hum.Mol.Genet_10_1639 |
| PubMedID: 11487567 |
| 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 : Zschenker_2001_J.Lipid.Res_42_1033 |
| ESTHER : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedSearch : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedID: 11441129 |
| 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 : Krivit_2000_Bone.Marrow.Transplant_26_567 |
| ESTHER : Krivit_2000_Bone.Marrow.Transplant_26_567 |
| PubMedSearch : Krivit_2000_Bone.Marrow.Transplant_26_567 |
| PubMedID: 11019848 |
| 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 : Lohse_2000_J.Lipid.Res_41_23 |
| ESTHER : Lohse_2000_J.Lipid.Res_41_23 |
| 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 : Elleder_2000_J.Hepatol_32_528 |
| ESTHER : Elleder_2000_J.Hepatol_32_528 |
| PubMedSearch : Elleder_2000_J.Hepatol_32_528 |
| PubMedID: 10735626 |
| 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 : 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 : Anderson_1999_Mol.Genet.Metab_68_333 |
| ESTHER : Anderson_1999_Mol.Genet.Metab_68_333 |
| PubMedSearch : Anderson_1999_Mol.Genet.Metab_68_333 |
| PubMedID: 10562460 |
| 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 : Lohse_1999_J.Lipid.Res_40_221 |
| ESTHER : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedSearch : Lohse_1999_J.Lipid.Res_40_221 |
| PubMedID: 9925650 |
| 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 : Du_1998_Hum.Mol.Genet_7_1347 |
| ESTHER : Du_1998_Hum.Mol.Genet_7_1347 |
| PubMedSearch : Du_1998_Hum.Mol.Genet_7_1347 |
| PubMedID: 9700186 |
| Gene_locus related to this paper: mouse-1llip |
| 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 : Ries_1998_Hum.Mutat_12_44 |
| ESTHER : Ries_1998_Hum.Mutat_12_44 |
| PubMedSearch : Ries_1998_Hum.Mutat_12_44 |
| PubMedID: 9633819 |
| 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 : Du_1998_Mol.Genet.Metab_64_126 |
| ESTHER : Du_1998_Mol.Genet.Metab_64_126 |
| PubMedSearch : Du_1998_Mol.Genet.Metab_64_126 |
| PubMedID: 9705237 |
| 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 : Redonnet-Vernhet_1998_Hum.Mutat_11_335 |
| ESTHER : Redonnet-Vernhet_1998_Hum.Mutat_11_335 |
| PubMedSearch : Redonnet-Vernhet_1998_Hum.Mutat_11_335 |
| PubMedID: 9554751 |
| Gene_locus related to this paper: human-LIPA |
| 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 : Redonnet-Vernhet_1997_Biochem.Mol.Med_62_42 |
| ESTHER : Redonnet-Vernhet_1997_Biochem.Mol.Med_62_42 |
| 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 : Rothe_1997_Atherosclerosis_130_215 |
| ESTHER : Rothe_1997_Atherosclerosis_130_215 |
| PubMedSearch : Rothe_1997_Atherosclerosis_130_215 |
| PubMedID: 9126667 |
| 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 : Muntoni_1996_Hum.Genet_97_265 |
| ESTHER : Muntoni_1996_Hum.Genet_97_265 |
| 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 : Aslanidis_1996_Genomics_33_85 |
| ESTHER : Aslanidis_1996_Genomics_33_85 |
| PubMedSearch : Aslanidis_1996_Genomics_33_85 |
| PubMedID: 8617513 |
| 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 : Ries_1996_J.Lipid.Res_37_1761 |
| ESTHER : Ries_1996_J.Lipid.Res_37_1761 |
| PubMedSearch : Ries_1996_J.Lipid.Res_37_1761 |
| PubMedID: 8864960 |
| 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 : Pagani_1996_Hum.Mol.Genet_5_1611 |
| ESTHER : Pagani_1996_Hum.Mol.Genet_5_1611 |
| PubMedSearch : Pagani_1996_Hum.Mol.Genet_5_1611 |
| PubMedID: 8894696 |
| 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 : Muntoni_1995_Hum.Genet_95_491 |
| ESTHER : Muntoni_1995_Hum.Genet_95_491 |
| 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 : Tanaka_1995_Nihon.Rinsho_53_3004 |
| ESTHER : Tanaka_1995_Nihon.Rinsho_53_3004 |
| PubMedSearch : Tanaka_1995_Nihon.Rinsho_53_3004 |
| PubMedID: 8577049 |
| 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 : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| ESTHER : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| PubMedSearch : Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773 |
| PubMedID: 7773732 |
| 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 : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| ESTHER : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| PubMedSearch : Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718 |
| PubMedID: 8146180 |
| 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 : Aslanidis_1994_Genomics_20_329 |
| ESTHER : Aslanidis_1994_Genomics_20_329 |
| PubMedSearch : Aslanidis_1994_Genomics_20_329 |
| PubMedID: 8020990 |
| 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 : Pagani_1994_Hum.Mol.Genet_3_1605 |
| ESTHER : Pagani_1994_Hum.Mol.Genet_3_1605 |
| PubMedSearch : Pagani_1994_Hum.Mol.Genet_3_1605 |
| PubMedID: 7833918 |
| 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 : 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 : Klima_1993_J.Clin.Invest_92_2713 |
| ESTHER : Klima_1993_J.Clin.Invest_92_2713 |
| PubMedSearch : Klima_1993_J.Clin.Invest_92_2713 |
| PubMedID: 8254026 |
| Gene_locus related to this paper: human-LIPA |
| 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 : Roytta_1992_Clin.Genet_42_1 |
| ESTHER : Roytta_1992_Clin.Genet_42_1 |
| 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 : Anderson_1991_J.Biol.Chem_266_22479 |
| ESTHER : Anderson_1991_J.Biol.Chem_266_22479 |
| PubMedSearch : Anderson_1991_J.Biol.Chem_266_22479 |
| PubMedID: 1718995 |
| Gene_locus related to this paper: human-LIPA |
| 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 : Kuriyama_1990_J.Lipid.Res_31_1605 |
| ESTHER : Kuriyama_1990_J.Lipid.Res_31_1605 |
| 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: 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 : Di Bisceglie_1990_Hepatology_11_764 |
| ESTHER : Di Bisceglie_1990_Hepatology_11_764 |
| PubMedSearch : Di Bisceglie_1990_Hepatology_11_764 |
| PubMedID: 2347551 |
| 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 : Desai_1987_Am.J.Med.Genet_26_689 |
| ESTHER : Desai_1987_Am.J.Med.Genet_26_689 |
| PubMedSearch : Desai_1987_Am.J.Med.Genet_26_689 |
| PubMedID: 3565483 |
| 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 : Chatterjee_1986_Clin.Genet_29_360 |
| ESTHER : Chatterjee_1986_Clin.Genet_29_360 |
| PubMedSearch : Chatterjee_1986_Clin.Genet_29_360 |
| PubMedID: 3742843 |
| 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 : 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 : Besley_1984_Clin.Genet_26_195 |
| ESTHER : Besley_1984_Clin.Genet_26_195 |
| 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 : Hoeg_1984_Am.J.Hum.Genet_36_1190 |
| ESTHER : Hoeg_1984_Am.J.Hum.Genet_36_1190 |
| PubMedSearch : Hoeg_1984_Am.J.Hum.Genet_36_1190 |
| PubMedID: 6097111 |
| 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 : Koch_1981_Somatic.Cell.Genet_7_345 |
| ESTHER : Koch_1981_Somatic.Cell.Genet_7_345 |
| PubMedSearch : Koch_1981_Somatic.Cell.Genet_7_345 |
| PubMedID: 7292252 |
| 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 : 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 : Burton_1981_Am.J.Hum.Genet_33_203 |
| ESTHER : Burton_1981_Am.J.Hum.Genet_33_203 |
| PubMedSearch : Burton_1981_Am.J.Hum.Genet_33_203 |
| PubMedID: 6782865 |
| 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 : Schaub_1980_Eur.J.Pediatr_135_45 |
| ESTHER : Schaub_1980_Eur.J.Pediatr_135_45 |
| 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 : Byrd_1979_Acta.Neuropathol_45_37 |
| ESTHER : Byrd_1979_Acta.Neuropathol_45_37 |
| PubMedSearch : Byrd_1979_Acta.Neuropathol_45_37 |
| PubMedID: 216225 |
| 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 : Coates_1978_Am.J.Med.Genet_2_397 |
| ESTHER : Coates_1978_Am.J.Med.Genet_2_397 |
| 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 : Beaudet_1977_J.Pediatr_90_910 |
| ESTHER : Beaudet_1977_J.Pediatr_90_910 |
| 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 : Cortner_1976_Pediatr.Res_10_927 |
| ESTHER : Cortner_1976_Pediatr.Res_10_927 |
| 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 : Sloan_1972_J.Clin.Invest_51_1923 |
| ESTHER : Sloan_1972_J.Clin.Invest_51_1923 |
| 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 : Lake_1971_J.Clin.Pathol_24_617 |
| ESTHER : Lake_1971_J.Clin.Pathol_24_617 |
| 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 : Deficiency of an acid lipase in Wolman's disease - |
| Author(s) : Patrick AD , Lake BD |
| Ref : Nature , 222 :1067 , 1969 |
| PubMedID: 5787090 |
| 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 : 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 |