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Article

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet journal of rare diseases - 4 Dec 2021

Lin Yiming, Lin Bangbang, Chen Yanru, Zheng Zhenzhu, Fu Qingliu, Lin Weihua, Zhang Weifeng

Abstract excerpt

BACKGROUND: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics of patients with PCD detected through NBS. RESULTS: A total of 548 247 newborns were screened for PCD between January...

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Identifiers

PMID: 34863234
DOI: 10.1186/s13023-021-02126-3
PMCID: PMC8642906

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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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