Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China

Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in a cohort of 420 patients from neonat...

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Detalles Bibliográficos
Autores principales: Chen, Ting, Xu, Weize, Wu, Dingwen, Han, Jiamin, Zhu, Ling, Tong, Fan, Yang, Rulai, Zhao, Zhengyan, Jiang, Pingping, Shu, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244417/
https://www.ncbi.nlm.nih.gov/pubmed/30459323
http://dx.doi.org/10.1038/s41598-018-35373-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244417/
https://www.ncbi.nlm.nih.gov/pubmed/30459323
http://dx.doi.org/10.1038/s41598-018-35373-9

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