Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylal...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602921/
https://ncbi.nlm.nih.gov/pubmed/28915855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0464-x
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