Publications
- Newborn screening of inherited metabolic diseases in the Czech Republic +12018 | First Faculty of Medicine, Third Faculty of Medicine
- Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project2011 | First Faculty of Medicine
- Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations2009 | First Faculty of Medicine
- Tandem mass spectrometry of globotriaosylceramide: quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease +12007 | First Faculty of Medicine
- Newborn screening of inherited metabolic disorders by tandem mass spectrometry2005 | First Faculty of Medicine
- Tandem mass spectrometry in newborn screening of hereditary metabolic diseases2005 | Faculty of Physical Education and Sport
- První český pacient s deficitem aminoacylázy 12023 | First Faculty of Medicine
- 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
Loading network view...