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Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province

Background: Hyperphenylalaninemia (HPA) is the most common inborn error in amino acid metabolism. It can be primarily classified into phenylalanine hydroxylase (PAH) deficiency and tetrahydrobiopterin (BH4) deficiency. BH4 deficiency (BH4D) is caused by genetic defects in enzymes involved in the bio...

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Detalles Bibliográficos
Autores principales:	Xie, Kang, Zeng, Baitao, Zhang, Liuyang, Chen, Shaohong, Zou, Yongyi, Yuan, Huizhen, Huang, Shuhui, Wang, Feng, Lu, Qing, Liu, Yanqiu, Yang, Bicheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792861/ https://www.ncbi.nlm.nih.gov/pubmed/36583021 http://dx.doi.org/10.3389/fgene.2022.1077729

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