Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic character...

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Autores principales: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
Primary carnitine deficiency
Newborn screening
SLC22A5 gene
Free carnitine
Tandem mass spectrometry
Medicine
R
Acceso en línea:https://doaj.org/article/c08bc83234284ea583a2fc429935d36f
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