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phenylalanine hydroxylase
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Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
1997 |
Faculty of Physical Education and Sport
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
Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations
2013 |
Third Faculty of Medicine
publication
Osteopenia - a potential complication of phenylketonuria
2011 |
Faculty of Medicine in Hradec Králové
publication
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
2015 |
First Faculty of Medicine
publication
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
2021 |
Third Faculty of Medicine