Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Abstract Background Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD in Fujian Province in China mainland. Methods Primary carnitine d...

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Bibliographic Details
Main Authors: Yao Chen, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
MS/MS analysis
neonatal screening
primary carnitine deficiency
SLC22A5 gene
Online Access:https://doi.org/10.1002/mgg3.1583

Internet

https://doi.org/10.1002/mgg3.1583

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