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cystathionine beta-synthase deficiency
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Person
Publication
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MUDr. Sylvie Šťastná CSc.
External person at First Faculty of Medicine
42 publications
Publications
publication
Today's view of hereditary thrombophilia
2022 |
First Faculty of Medicine
publication
Reference values of laboratory tests
2013 |
First Faculty of Medicine
publication
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
2012 |
First Faculty of Medicine
publication
Neonatal screening in the Czech Republic
2010 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Newborn screening of inherited metabolic disorders by tandem mass spectrometry
2005 |
First Faculty of Medicine
publication
Metabolic compendium 2006
2005 |
First Faculty of Medicine
publication
Differential diagnostics of hyperuricaemia in hereditary metabolic diseases
2005 |
First Faculty of Medicine
publication
Tandem mass spectrometry in newborn screening of hereditary metabolic diseases
2005 |
Faculty of Physical Education and Sport
publication
Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment
2004 |
First Faculty of Medicine
publication
Tandem Mass Spectrometry - The Future of Newborn Screening of Inborn Errors of Metabolism
2003 |
First Faculty of Medicine
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