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Article

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.

Prenatal diagnosis - 1 Nov 2003

Vekemans Bernadette Chadefaux, Bonnefont Jean-Paul, Aupetit Joëlle, Royer Ghislaine, Droin Véronique, Attié-Bitach Tania, Saudubray Jean-Marie, Thuillier Laure

Abstract excerpt

Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) beta-oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular...

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Source

Identifiers

PMID: 14634971
DOI: 10.1002/pd.713

Genes

CPT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14634971-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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