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

Yao ChenQingying LinYinglin ZengXiaolong QiuGuanghua LiuWen-Bin Zhu

Published in: Molecular genetics & genomic medicine (2021)

MS/MS screening on PCD contributed to the early diagnosis and screening. In addition, SLC22A5 gene mutation analysis contributed to the PCD screening.

Keyphrases

ms ms
genome wide
copy number
gene expression
dna methylation
mass spectrometry
high resolution
replacement therapy
smoking cessation
tandem mass spectrometry
ultra high performance liquid chromatography