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Article

Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Apr 2024

Zhang Yan, Qiu Wenjuan, Zhang Huiwen, Chen Ting, Xu Feng, Gu Xuefan, Han Lianshu

Abstract excerpt

OBJECTIVES: To investigate the clinical characteristic and genetic variants of children with carnitine palmitoyltransferase 2 (CPT2) deficiency. METHODS: The clinical and genetic data of 6 children with CPT2 deficiency were retrospectively analyzed. The blood acylcarnitines and genetic variants were detected with tandem mass spectrometry and whole-exon gene sequencing, respectively. RESULTS: There were 4 males...

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Identifiers

PMID: 38650450
DOI: 10.3724/zdxbyxb-2023-0611
PMCID: PMC11057986

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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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