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Article

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

Molecular genetics & genomic medicine - 1 Feb 2021

Chen Yao, Lin Qingying, Zeng Yinglin, Qiu Xiaolong, Liu Guanghua, Zhu Wenbin

Abstract excerpt

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 deficiency (PCD) samples used in this study were selected from 95,453 cases underwent neonatal screening between May 2015...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33560599
DOI: 10.1002/mgg3.1583
PMCID: PMC8077093

Genes

SLC22A5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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