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Renal carnitine transport defect
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
No genes found
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
carnitine transmembrane transporter activity
carnitine transmembrane transport
antibiotic transmembrane transporter activity
Organic cation transport protein/SVOP
REACTOME_ORGANIC_CATION_ANION_ZWITTERION_TRANSPORT
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Kidney diseases
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Literature
Most Relevant Literature
Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe Islands]…
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular test…
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine …
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Clinical Trials
Most Relevant Clinical Trials
Carnitine Consumption and Augmentation in Pulmonary Arterial Hypertension
Enhancing the Effects of Adolescent Alcohol Treatment With Acetyl-L-Carnitine
Phase 1 Study of PK and Safety of Tebipenem Pivoxil Hydrobromide (TBPM-PI-HBr) in Subjects With Vari…
Levocarnitine for Dry Eye in Sjogren's Syndrome
Study to Assess the Efficacy, Safety and Pharmacokinetics of Orally Administered Tebipenem Pivoxil H…
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