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Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan

Phenylketonuria (PKU) and hyperphenylalaninemia (HPA), both identified in newborn screening, are attributable to variants in PAH. Reportedly, the p.R53H(c.158G>A) variant is common in patients with HPA in East Asia. Here, we aimed to define the association between p.R53H and HPA phenotype, and st...

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Detalles Bibliográficos
Autores principales:	Odagiri, Shino, Kabata, Daijiro, Tomita, Shogo, Kudo, Satoshi, Sakaguchi, Tomoko, Nakano, Noriko, Yamamoto, Kouji, Shintaku, Haruo, Hamazaki, Takashi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8006226/ https://www.ncbi.nlm.nih.gov/pubmed/33803550 http://dx.doi.org/10.3390/ijns7010017

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