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 em 2010

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 em 2008

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

Por Vazna, Alzbeta, Beesley, Clare, Berna, Linda, Stolnaja, Larisa, Myskova, Helena, Bouckova, Michaela, Vlaskova, Hana, Poupetova, Helena, Zeman, Jiri, Magner, Martin, Hlavata, Anna, Winchester, Bryan, Hrebicek, Martin, Dvorakova, Lenka
Publicado em 2009

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 em 2009