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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Veröffentlicht in:BMC Med Genet
Hauptverfasser: Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
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Research Article
Online Zugang: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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