Publications
- Tandem mass spectrometry of globotriaosylceramide: quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease +12007 | First Faculty of Medicine
- Methylmalonic Acidemia : clinical, biochemical a molecular biological studie2006 | First Faculty of Medicine
- Methylmalonic Acidemia : clinical, biochemical a molecular biological studie2006 | Faculty of Physical Education and Sport
- Metabolic compendium 20062005 | First Faculty of Medicine
- Molecular analysis of Czech patients with Methylmalonic aciduriaPublication without faculty affiliation
- Diagnostic guideline for hyperuricemiaPublication without faculty affiliation
- Diagnostic procedures for hypouricemiaPublication without faculty affiliation
- Diagnostika deficitu adenylosukcinátlyázyPublication without faculty affiliation
- Undiscovered lysosomal β-galactosidase deficiency in the patient suffering from spondyloepimetaphyseal dysplasiaPublication without faculty affiliation
- Prenatal diagnosis in two families with methylmalonic acidemia due to cobalamin B deficiency +1Publication without faculty affiliation
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