| 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 : |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Tietge_2001_Hum.Gene.Ther_12_279 |
| PubMedID: 11177564 |
| 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 : 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 : [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 : |
| PubMedSearch : Elleder_1999_Cas.Lek.Cesk_138_719 |
| PubMedID: 10746035 |
| 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 : 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 : |
| 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 : |
| 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 : |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Klein_1992_J.Clin.Invest_89_499 |
| PubMedID: 1737840 |
| Gene_locus related to this paper: human-LCAT |