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Neonatal screening program
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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 study
2021 |
Third Faculty of Medicine, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry
2006 |
Third Faculty of Medicine
publication
The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
2014 |
Third Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine