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

• मुख्य लेखकों: Pongsathorn Chaiyasap (लेखक), Chupong Ittiwut (लेखक), Chalurmpon Srichomthong (लेखक), Apiruk Sangsin (लेखक), Kanya Suphapeetiporn (लेखक), Vorasuk Shotelersuk (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2017-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract 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...