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
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.
Odagiri S et al.
International Journal of Neonatal Screening, 2021
33803550 (PubMed )
Supplement: IJNS-07-00017-s001.zip › IJNS-1138821-supplementary.xlsx › ___370_____
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
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_PAH
Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Dateki S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y et al.
Journal of Human Genetics, 2011
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