Linda Berná

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

Helena Poupětová, J. Ledvinová, Linda Berná et al. · Journal of Inherited Metabolic Disease · 2010 · 213 citations · Full text

Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

Ladislav Kuchař, J. Ledvinová, Martin Hřebı́ček et al. · American Journal of Medical Genetics Part A · 2009 · 83 citations · Full text

Urology, Saposin B Deficiency, Autoimmune Disease +15

Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient

M. Elleder, M. Jeřábková, A. Befekadu et al. · Neuropediatrics · 2005 · 53 citations

Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Agnieszka Ługowska, Olga Amaral, Johannes Berger et al. · Molecular Genetics and Metabolism · 2005 · 41 citations

Arsa Gene, Genetic Disorder, Genetics +6

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

Jana Keslová-Veselíková, Helena Hůlková, Robert Dobrovolný et al. · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2008 · 36 citations · Full text