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systemic carnitine deficiency
(phenotype)
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Genetic Markers
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No genes 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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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
Effects of Parenteral L-carnitine Supplementation in Premature Neonates
Preventive Effect of Acetyl-L-carnitine on Oxaliplatin-induced Peripheral Neuropathy
Clinical Study on Acetyl-L-Carnitine
A Randomized Controlled Trial to Assess the Effect of L-carnitine in Patients With Diabetic Peripher…
Ketogenic Diet Adjunctive to HD-MTX Chemotherapy for Primary Central Nervous System Lymphoma
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