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

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

Source: Molecular Genetics & Genomic Medicine - February 11, 2021 Category: Genetics & Stem Cells Authors: Yao Chen, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu Tags: ORIGINAL ARTICLE Source Type: research