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phenylketonuria
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RNDr. Josef Bártl Ph.D.
External academic staff at First Faculty of Medicine
15 publications
Publications
publication
Newborn screening of inherited metabolic diseases in the Czech Republic
+1
2018 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Robust and high-throughput lipidomic quantitation of human blood samples using flow injection analysis with tandem mass spectrometry for clinical use
2023 |
First Faculty of Medicine
publication
Newborn screening for homocystinurias: Recent recommendations versus current practice
2019 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Modern diagnostic approach to hereditary xanthinuria
2015 |
First Faculty of Medicine
publication
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 homocystinuria
2014 |
First Faculty of Medicine
publication
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I
2012 |
First Faculty of Medicine
publication
Diagnostic tests for primary renal hypouricemia
2011 |
First Faculty of Medicine
publication
Quantitative Structure-Electrochemistry Relationship of 1-Phenyl-5-benzyl-sulfanyltetrazoles and Their Electrooxidation as a Metabolic Model
2010 |
Faculty of Science, Faculty of Pharmacy in Hradec Králové
publication
Screening of inherited metabolic disorders by tandem mass spectrometry
+1
Publication without faculty affiliation
publication
Mucopolysaccharidosis type I-S in siblings
Publication without faculty affiliation
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