Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province

Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbance of amino acid metabolism may impair cognitive de...

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Detalles Bibliográficos
Autores principales: Zeng, Baitao, Lu, Qing, Chen, Shaohong, Guan, Huizhen, Xu, Xiaolan, Zou, Yongyi, Wang, Feng, Huang, Shuhui, Liu, Yanqiu, Yang, Bicheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946975/
https://www.ncbi.nlm.nih.gov/pubmed/36845377
http://dx.doi.org/10.3389/fgene.2023.1049816

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946975/
https://www.ncbi.nlm.nih.gov/pubmed/36845377
http://dx.doi.org/10.3389/fgene.2023.1049816

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