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Article

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.

Annals of nutrition & metabolism - 1 Jan 2016

Longo Nicola

Abstract excerpt

Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency,...

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Identifiers

PMID: 27931018
DOI: 10.1159/000448321

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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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