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| 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 : A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin - Gasche_1997_J.Hepatol_27_744 |
| Author(s) : Gasche C , Aslanidis C , Kain R , Exner M , Helbich T , Dejaco C , Schmitz G , Ferenci P |
| Ref : Journal of Hepatology , 27 :744 , 1997 |
| Abstract : Gasche_1997_J.Hepatol_27_744 |
| ESTHER : Gasche_1997_J.Hepatol_27_744 |
| PubMedSearch : Gasche_1997_J.Hepatol_27_744 |
| PubMedID: 9365051 |
| 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 |