Associated Papers
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria.
van Wegberg A et al.
Molecular Genetics and Metabolism, 2021
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
Cao YY et al.
Molecular Genetics and Metabolism, 2014
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
23842451 (PubMed )
Supplement: 1750-1172-8-103-S1.pdf
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