Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

BACKGROUND: Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a difficult life. Early diagnosis of HPA before the develop...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Wang, Xin, Wang, Yanyun, Ma, Dingyuan, Zhang, Zhilei, Li, Yahong, Yang, Peiying, Sun, Yun, Jiang, Tao
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2021
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8114530/
https://ncbi.nlm.nih.gov/pubmed/33980295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01846-w
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