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Article

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

Molecular genetics and metabolism - 1 Apr 2009

Greenberg Cheryl R, Dilling Louise A, Thompson G Robert, Seargeant Lorne E, Haworth James C, Phillips Susan, Chan Alicia, Vallance Hilary D, Waters Paula J, Sinclair Graham, Lillquist Yolanda, Wanders Ronald J A, Olpin Simon E

Abstract excerpt

Investigation of seven patients from three families suspected of a fatty acid oxidation defect showed mean CPT-I enzyme activity of 5.9+/-4.9 percent of normal controls. The families, two Inuit, one First Nation, live in areas of Canada geographically very distant from each other. The CPT1 and CP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19217814
DOI: 10.1016/j.ymgme.2008.12.018

Genes

CPT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19217814-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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