Helena Poupětová

New insights in cardiac structural changes in patients with Fabry’s disease

Aleš Linhart, Tomáš Paleček, Jan Bultas et al. · American Heart Journal · 2000 · 251 citations

Fabry ’, Cardiomyopathy, Heart Failure +11

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

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Michael Fietz, Moeenaldeen AlSayed, Derek Burke et al. · Molecular Genetics and Metabolism · 2016 · 97 citations · Full text

Creutzfeldt-jakob Disease, Neurological Disorder, Expert Recommendations +16

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe et al. · The American Journal of Human Genetics · 2006 · 95 citations · Full text

Sanfilippo C Syndrome, Autoimmune Disease, Genetic Disorder +6

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population

M Merta, Jana Reiterová, J. Ledvinová et al. · Nephrology Dialysis Transplantation · 2006 · 86 citations