Renal carnitine transport defect

Known as: Carnitine deficiency, primary, CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF, Carnitine Uptake Deficiency 
An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called… (More)
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
Carnitine is a conditionally essential nutrient that plays a vital role in energy production and fatty acid metabolism… (More)
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Highly Cited
2007
Highly Cited
2007
Eukaryotic gene transcription is accompanied by acetylation and methylation of nucleosomes near promoters, but the locations and… (More)
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Review
2006
Review
2006
Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. This… (More)
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Review
2004
Review
2004
Carnitine status in humans is reported to vary according to body composition, gender, and diet. Plasma carnitine concentration… (More)
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Review
2004
Review
2004
In mammals, the carnitine pool consists of nonesterified L-carnitine and many acylcarnitine esters. Of these esters, acetyl-L… (More)
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Review
2004
Review
2004
Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial fatty acid oxidation. The CPT system is… (More)
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Highly Cited
2000
Highly Cited
2000
Carnitine is essential for beta-oxidation of fatty acids, and a defect of cell membrane transport of carnitine leads to fatal… (More)
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Highly Cited
1999
Highly Cited
1999
Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive… (More)
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Highly Cited
1998
Highly Cited
1998
Primary carnitine deficiency, because of a defect of the tissue plasma membrane carnitine transporters, causes critical symptoms… (More)
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Review
1991
Review
1991
A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the… (More)
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