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Article

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Laboratory investigation; a journal of technical methods and pathology - 1 Nov 2003

Sigauke Ellen, Rakheja Dinesh, Kitson Kimberly, Bennett Michael J

Abstract excerpt

Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and its phenotypic variability remains fascinating. Three distinct clinical entities have been described, the adult, the infantile, and the perinatal, all with an autosomal recessive inherit...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 14615409
DOI: 10.1097/01.lab.0000098428.51765.83

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14615409-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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