J Zeman

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

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck et al. · Orphanet Journal of Rare Diseases · 2011 · 223 citations · Full text

Inborn Metabolic Diseases: Diagnosis and Treatment

J Zeman · Acta Paediatrica · 2012 · 212 citations

Metabolic Syndrome, Metabolic Disorder, Metabolic Disease +7

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 197 citations

Mitochondrial Myopathy, Neonatal Mitochondrial Encephalocardiomyopathy, Mitochondrial Biogenesis +8

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 183 citations · Full text