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

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

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...

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Bibliographic Details
Main Authors: Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format: Article
Language:English
Published: BMC 2017-09-01
Series:BMC Medical Genetics
Subjects:
Next generation sequencing
Exome
Hyperphenylalaninemia
Phenylketonuria
Tetrahydrobiopterin deficiency
Newborn screening
Online Access:http://link.springer.com/article/10.1186/s12881-017-0464-x

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http://link.springer.com/article/10.1186/s12881-017-0464-x

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