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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Med Genet
Egile Nagusiak: Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2017
Gaiak:
Research Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak