Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Cannabis is the most commonly used substance of abuse in the United States after alcohol and tobacco. With a recent increase in… Expand
  • figure 1
  • figure 1
  • figure 2
Is this relevant?
Review
2018
Review
2018
Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially during prolonged fasting and sub… Expand
  • figure 1
  • table 1
Is this relevant?
Review
2017
Review
2017
OBJECTIVE To present information on predictors of treatment utilization and barriers to treatment utilization among individuals… Expand
  • table 1
  • table 2
Is this relevant?
Review
2017
Review
2017
Background. Whether additional benefit can be achieved with the use of L-carnitine (L-C) in patients with chronic heart failure… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Eukaryotic gene transcription is accompanied by acetylation and methylation of nucleosomes near promoters, but the locations and… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
The enzyme carnitine palmitoyltransferase-1 (CPT1) regulates long-chain fatty acid (LCFA) entry into mitochondria, where the… Expand
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2001
Highly Cited
2001
1 Contemporary stable isotope methodology was applied in combination with muscle biopsy sampling to accurately quantify substrate… Expand
Is this relevant?
Highly Cited
1999
Highly Cited
1999
Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 6
  • figure 4
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Primary carnitine deficiency, because of a defect of the tissue plasma membrane carnitine transporters, causes critical symptoms… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
1983
Highly Cited
1983
An X-linked recessive disease is reported in a large pedigree. The disease is characterised by a triad of dilated cardiomyopathy… Expand
Is this relevant?