Article
Newborn screening for primary carnitine deficiency in Quanzhou, China.
Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2021
Lin Weihua, Wang Kunyi, Zheng Zhenzhu, Chen Yanru, Fu Caifeng, Lin Yiming, Chen Dongmei
Abstract excerpt
BACKGROUND AND AIMS: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by functional defects in the carnitine transporter OCTN2 due to mutations in SLC22A5. Here, we aimed to understand the incidence, clinical, biochemical, and molecular features of PCD in Quanzhou, China. MATERIALS AND METHODS: Newborn screening (NBS) was performed through tandem mass spectrometry (MS/MS) to detect...
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