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Article

Carnitine transport: pathophysiology and metabolism of known molecular defects.

Journal of inherited metabolic disease - 1 Jan 2003

Tein I

Abstract excerpt

Early-onset dilatative and/or hypertrophic cardiomyopathy with episodic hypoglycaemic coma and very low serum and tissue concentrations of carnitine should alert the clinician to the probability of the plasmalemmal high-affinity carnitine transporter defect. The diagnosis can be established by demonstration of impaired carnitine uptake in cultured skin fibroblasts or lymphoblasts and confirmed by mutation...

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Identifiers

PMID: 12889657
DOI: 10.1023/a:1024481016187

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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