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phenylketonuria
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Ing. Karolína Pešková
Person without affiliation with CUNI
17 publications
Publications
publication
Laboratory newborn screening
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Epidemiology of rare diseases detected by newborn screening in the Czech Republic
2019 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Newborn screening of inherited metabolic diseases in the Czech Republic
+1
2018 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Results of expanded newborn screening in the Czech Republic
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
2012 |
First 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
První český pacient s deficitem aminoacylázy 1
2023 |
First Faculty of Medicine
publication
Factors Influencing Parental Awareness about Newborn Screening
2019 |
First Faculty of Medicine
publication
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
2017 |
First Faculty of Medicine
publication
Přínos suché krevní kapky v diagnostice dědičných metabolických onemocnění
2017 |
Publication without faculty affiliation
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