Publications
- Contiguous X-chromosome deletion syndrome Encompassing the BTK, TIMM8A, TAF7L and DRP2 genes2007 | First Faculty of Medicine
- Critically ill neonate - indication for metabolic investigation2006 | First Faculty of Medicine
- Mutation in TMEM76 cause mucopolysacharidosis III C syndrome2006 | First Faculty of Medicine
- Methylmalonic Acidemia : clinical, biochemical a molecular biological studie2006 | First Faculty of Medicine
- Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency2005 | First Faculty of Medicine
- Molecular analysis of Czech patients with Methylmalonic aciduriaPublication without faculty affiliation
- Molecular analysis of Czech patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiencyPublication without faculty affiliation
- Mutation in TMEM76 are associated with acetyl coenzyme A: Alfa-glucosaminide A acetyltransferase deficiency in mucopolysaccharidosis type IIIc patientsPublication without faculty affiliation
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