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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Research Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller