Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

• Hauptverfasser: Ning Liu (Verfasst von), Qiuying Huang (Verfasst von), Qingge Li (Verfasst von), Dehua Zhao (Verfasst von), Xiaole Li (Verfasst von), Lixia Cui (Verfasst von), Ying Bai (Verfasst von), Yin Feng (Verfasst von), Xiangdong Kong (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2017-10-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Abstract Background Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity...