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References (14)

Title : Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children - Freudenberg_2013_Z.Gastroenterol_51_1184
Author(s) : Freudenberg F , Bufler P , Ensenauer R , Lohse P , Koletzko S
Ref : Z Gastroenterol , 51 :1184 , 2013
Abstract : Freudenberg_2013_Z.Gastroenterol_51_1184
ESTHER : Freudenberg_2013_Z.Gastroenterol_51_1184
PubMedSearch : Freudenberg_2013_Z.Gastroenterol_51_1184
PubMedID: 24122380

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 : Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease - Rassoul_2001_Int.J.Clin.Pharmacol.Ther_39_199
Author(s) : Rassoul F , Richter V , Lohse P , Naumann A , Purschwitz K , Keller E
Ref : Int J Clinical Pharmacology & Therapeutics , 39 :199 , 2001
Abstract : Rassoul_2001_Int.J.Clin.Pharmacol.Ther_39_199
ESTHER : Rassoul_2001_Int.J.Clin.Pharmacol.Ther_39_199
PubMedSearch : Rassoul_2001_Int.J.Clin.Pharmacol.Ther_39_199
PubMedID: 11380065

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 : 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 : 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 : [Lysosomal acid lipase deficiency. Overview of Czech patients] - Elleder_1999_Cas.Lek.Cesk_138_719
Author(s) : Elleder M , Poupetova H , Ledvinova J , Hyanek J , Zeman J , Sykora J , Stozicky F , Chlumska A , Lohse P
Ref : Casopis Lekaru Ceskych , 138 :719 , 1999
Abstract : Elleder_1999_Cas.Lek.Cesk_138_719
ESTHER : Elleder_1999_Cas.Lek.Cesk_138_719
PubMedSearch : Elleder_1999_Cas.Lek.Cesk_138_719
PubMedID: 10746035

Title : The acid lipase gene family: three enzymes, one highly conserved gene structure - Lohse_1997_J.Lipid.Res_38_880
Author(s) : Lohse P , Chahrokh-Zadeh S , Seidel D
Ref : J Lipid Res , 38 :880 , 1997
Abstract : Lohse_1997_J.Lipid.Res_38_880
ESTHER : Lohse_1997_J.Lipid.Res_38_880
PubMedSearch : Lohse_1997_J.Lipid.Res_38_880
PubMedID: 9186906
Gene_locus related to this paper: human-LIPF

Title : Human lysosomal acid lipase\/cholesteryl ester hydrolase and human gastric lipase: identification of the catalytically active serine, aspartic acid, and histidine residues - Lohse_1997_J.Lipid.Res_38_892
Author(s) : Lohse P , Chahrokh-Zadeh S , Seidel D
Ref : J Lipid Res , 38 :892 , 1997
Abstract : Lohse_1997_J.Lipid.Res_38_892
ESTHER : Lohse_1997_J.Lipid.Res_38_892
PubMedSearch : Lohse_1997_J.Lipid.Res_38_892
PubMedID: 9186907

Title : Human lysosomal acid lipase\/cholesteryl ester hydrolase and human gastric lipase: site-directed mutagenesis of Cys227 and Cys236 results in substrate-dependent reduction of enzymatic activity - Lohse_1997_J.Lipid.Res_38_1896
Author(s) : Lohse P , Chahrokh-Zadeh S , Seidel D
Ref : J Lipid Res , 38 :1896 , 1997
Abstract : Lohse_1997_J.Lipid.Res_38_1896
ESTHER : Lohse_1997_J.Lipid.Res_38_1896
PubMedSearch : Lohse_1997_J.Lipid.Res_38_1896
PubMedID: 9323599

Title : Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His) - Rouis_1996_J.Lipid.Res_37_651
Author(s) : Rouis M , Lohse P , Dugi KA , Beg OU , Ronan R , Talley GD , Brunzell JD , Santamarina-Fojo S
Ref : J Lipid Res , 37 :651 , 1996
Abstract : Rouis_1996_J.Lipid.Res_37_651
ESTHER : Rouis_1996_J.Lipid.Res_37_651
PubMedSearch : Rouis_1996_J.Lipid.Res_37_651
PubMedID: 8728326

Title : Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn) - Klein_1993_J.Lipid.Res_34_49
Author(s) : Klein HG , Lohse P , Duverger N , Albers JJ , Rader DJ , Zech LA , Santamarina-Fojo S , Brewer HB, Jr.
Ref : J Lipid Res , 34 :49 , 1993
Abstract : Klein_1993_J.Lipid.Res_34_49
ESTHER : Klein_1993_J.Lipid.Res_34_49
PubMedSearch : Klein_1993_J.Lipid.Res_34_49
PubMedID: 8445342

Title : Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met) - Klein_1992_J.Clin.Invest_89_499
Author(s) : Klein HG , Lohse P , Pritchard PH , Bojanovski D , Schmidt H , Brewer HB, Jr.
Ref : J Clinical Investigation , 89 :499 , 1992
Abstract : Klein_1992_J.Clin.Invest_89_499
ESTHER : Klein_1992_J.Clin.Invest_89_499
PubMedSearch : Klein_1992_J.Clin.Invest_89_499
PubMedID: 1737840
Gene_locus related to this paper: human-LCAT