Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.

Jinfu ZhouGuilin LiYinglin ZengXiaolong QiuPeiran ZhaoTing HuangXi WangJinying LuoNa LinLiangpu Xu

Published in: Orphanet journal of rare diseases (2024)

This study systematically analyzed PCD prevalence and identified common SLC22A5 gene variants in the Chinese population. The findings provide valuable epidemiological insights and guidance for future PCD screening effects in newborns.

Keyphrases

pregnant women
copy number
gestational age
cord blood
risk factors
current status
replacement therapy