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Hyperphenylalaninemia
Publication
Class
Person
Publication
Programmes
publication
Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations
2013 |
Third Faculty of Medicine
publication
Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment
2004 |
First Faculty of Medicine
publication
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients < 4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
2017 |
Central Library of Charles University
publication
Phenylketonuria: Inovative therapy with sapropterin
2018 |
Third Faculty of Medicine
publication
Monitoring of Phenylalanine in Plasma of Hyperphenylalaninemic Mothers before and after Conception
Publication without faculty affiliation
publication
Osteopenia - a potential complication of phenylketonuria
2011 |
Faculty of Medicine in Hradec Králové
publication
Brain metabolism and electrogenesis in phenylketonuria
2015 |
Faculty of Medicine in Pilsen
publication
Results of expanded newborn screening in the Czech Republic
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
2020 |
First 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