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 : Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study - Hulkova_2005_Virchows.Arch_447_31 |
Author(s) : Hulkova H , Ledvinova J , Asfaw B , Koubek K , Kopriva K , Elleder M |
Ref : Virchows Arch , 447 :31 , 2005 |
Abstract : |
PubMedSearch : Hulkova_2005_Virchows.Arch_447_31 |
PubMedID: 15918012 |