Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 de...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biological Transport
Share to Carnitine
Share to Chemical and Drug Induced Liver Injury

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to Organic Cation Transport Proteins

Share to Solute Carrier Family 22 Member 5

Share to Symporters

Share to Valproic Acid

Source

Identifiers

PMID: 12889657
DOI: 10.1023/a:1024481016187

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12889657-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Carnitine transport: pathophysiology and metabolism of known molecular defects.PMID 12889657Read ↗

Carnitine transport by organic cation transporters and systemic carnitine deficiency.Semantic proximity Read ↗

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.Semantic proximity Read ↗

Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).Semantic proximity Read ↗

Carnitine transport and fatty acid oxidation.Semantic proximity Read ↗

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.Semantic proximity Read ↗

[The human OCTN2 carnitine transporter and its mutations].Semantic proximity Read ↗

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.Semantic proximity Read ↗

A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse.Semantic proximity Read ↗

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiencySemantic proximity Read ↗

Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2.Semantic proximity Read ↗

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.