Robert Dobrovolný

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset<i>GLA</i>mutation c.936+919G&gt;A (IVS4+919G&gt;A)

Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ni‐Chung Lee et al. · Human Mutation · 2009 · 349 citations · Full text

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

Robert Dobrovolný, Lenka Dvořáková, J. Ledvinová et al. · Journal of Molecular Medicine · 2005 · 168 citations

Biology, Mendelian Disorder, Genetic Disorder +7

Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke

Marcella A. Wozniak, Steven J. Kittner, Stanley Tuhrim et al. · Stroke · 2009 · 107 citations · Full text

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

Natural history of the respiratory involvement in Anderson–Fabry disease

Sudheera Magage, Jean-Claude Lubanda, Z Susa et al. · Journal of Inherited Metabolic Disease · 2007 · 63 citations