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Article

[Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2020

Huang Y L, Tang C F, Liu S C, Sheng H Y, Tang F, Jiang X, Zheng R D, Mei H F, Liu L

Abstract excerpt

Objective: To evaluate and improve the performance of the newborn screening program for primary carnitine deficiency (PCD) based on tandem mass spectrometry and to investigate the incidence of PCD and molecular characteristics of SLC22A5 gene in Guangzhou. Methods: A total of 200 180 neonates born in Guangzhou from 2015 to 2019 were enrolled into the newborn screening program for PCD by tandem mass spectrometry...

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PMID: 32521959
DOI: 10.3760/cma.j.cn112140-20200323-00292

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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