Publications
- The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases2022 | First Faculty of Medicine
- X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations2021 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study2021 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Mathematics and Physics
- Newborn screening for homocystinurias: Recent recommendations versus current practice2019 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Newborn screening of inherited metabolic diseases in the Czech Republic +12018 | First Faculty of Medicine, Third Faculty of Medicine
- Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria2014 | First Faculty of Medicine
- Enhanced interpretation of newborn screening results without analyte cutoff values2012 | Publication without faculty affiliation
- Tandem mass spectrometry of globotriaosylceramide: quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease +12007 | First Faculty of Medicine
- Introduction to diagnostic of disturbances of creatinin biosynthesis and transportaionPublication without faculty affiliation
- Prenatal diagnosis in two families with methylmalonic acidemia due to cobalamin B deficiency +1Publication without faculty affiliation
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