Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria

BACKGROUND: A growing body of research has suggested that tetrahydrobiopterin (BH4) responsive phenotype can be predicted by the phenylalanine hydroxylase (PAH) genotype in patients with phenylketonuria (PKU), but data concerning the association between genotype and BH4 responsiveness are scarce in...

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Detalles Bibliográficos
Autores principales: Tao, Jing, Li, Nana, Jia, Haitao, Liu, Zhen, Li, Xiaohong, Song, Jiaping, Deng, Ying, Jin, Xi, Zhu, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Translational Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700046/
https://www.ncbi.nlm.nih.gov/pubmed/26322415
http://dx.doi.org/10.1038/pr.2015.167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700046/
https://www.ncbi.nlm.nih.gov/pubmed/26322415
http://dx.doi.org/10.1038/pr.2015.167

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