The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

por Poupětová, Helena, Ledvinová, Jana, Berná, Linda, Dvořáková, Lenka, Kožich, Viktor, Elleder, Milan
Publicado 2010

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate α-galactosidase and α-N-acetylgalactosaminidase

por Hujová, Jana, Sikora, Jakub, Dobrovolný, Robert, Poupětová, Helena, Ledvinová, Jana, Kostrouchová, Marta, Hřebíček, Martin
Publicado 2005

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

por Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan
Publicado 2008

Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying...

por Kuchař, Ladislav, Ledvinová, Jana, Hřebíček, Martin, Myšková, Helena, Dvořáková, Lenka, Berná, Linda, Chrastina, Petr, Asfaw, Befekadu, Elleder, Milan, Petermöller, Margret, Mayrhofer, Heidi, Staudt, Martin, Krägeloh-Mann, Ingeborg, Paton, Barbara C, Harzer, Klaus
Publicado 2009

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

por Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova, Jana, Dvorakova, Lenka, Sikora, Jakub, Jirsa, Milan, Vanier, Marie T., Hrebicek, Martin
Publicado 2020