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...

Descripción completa

Detalles Bibliográficos
Autores principales: Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602921/
https://www.ncbi.nlm.nih.gov/pubmed/28915855
http://dx.doi.org/10.1186/s12881-017-0464-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602921/
https://www.ncbi.nlm.nih.gov/pubmed/28915855
http://dx.doi.org/10.1186/s12881-017-0464-x

Ejemplares similares