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

• Автори: Pongsathorn Chaiyasap (Автор), Chupong Ittiwut (Автор), Chalurmpon Srichomthong (Автор), Apiruk Sangsin (Автор), Kanya Suphapeetiporn (Автор), Vorasuk Shotelersuk (Автор)
• Формат: Книга
• Опубліковано: BMC, 2017-09-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...