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115 results

  1. Carnitine Palmitoyltransferase II Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1253
    ... II Deficiency National Library of Medicine Genetics Home Reference Carnitine palmitoyltransferase II deficiency FOD Family Support Group (Fatty ... Locus-Specific Databases HGMD ClinVar CPT2 1p32 ​.3 Carnitine ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Propionic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK92946
    ... on individual basis to maintain plasma free L-carnitine concentration w/in reference range. Lifelong carnitine supplementation is recommended. Impaired ureagenesis ...
  3. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6816
    ... an individual basis to maintain plasma free L-carnitine concentration w/in normal age-appropriate reference range. Supplemental carnitine may not be required but ...
  4. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... on an individual basis to maintain plasma free carnitine concentration w/in normal age-appropriate reference range. Lifelong carnitine supplementation is generally recommended. 8 ...
  5. Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546575
    ... an individual basis to maintain plasma free L-carnitine concentration w/in normal age-appropriate reference range. 15 Lifelong carnitine supplementation is generally recommended. ...
  6. Muscle Disorders | MedlinePlus 
    https://medlineplus.gov/muscledisorders.html
    ... The global prevalence and genetic spectrum of primary carnitine deficiency. Muscle Disorders -- see more articles Reference Desk Bones, Muscles, and Joints (Nemours Foundation) Also ...
  7. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... on individual basis to maintain plasma-free L-carnitine concentration w/in normal age-appropriate reference range. Addressing ↑ energy/ caloric demands Fundoplication, gastrostomy, or ...
  8. Systemic Primary Carnitine Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK84551
    ... Databases HGMD ClinVar SLC22A5 5q31 ​.1 Organic cation/carnitine transporter 2 SLC22A5 database SLC22A5 SLC22A5 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  9. Diabetic Nephropathy | Diabetic Kidney Disease | MedlinePlus 
    https://medlineplus.gov/diabetickidneyproblems.html
    ... pressure and volume status... Article: Involvement of impaired carnitine-induced fatty acid oxidation in experimental and human... Diabetic Kidney Problems -- see more articles Reference Desk Your Kidneys and How They Work (National ...
  10. Carnitine-Acylcarnitine Translocase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK582032
    ... Specific Databases HGMD ClinVar SLC25A20 3p21 ​.31 Mitochondrial carnitine/acylcarnitine carrier protein SLC25A20 database SLC25A20 SLC25A20 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
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