Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation

Hum Mutat. 2013 Apr;34(4):655. doi: 10.1002/humu.22286.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Animals
  • Cardiomyopathies / genetics*
  • Carnitine / metabolism*
  • Female
  • Humans
  • Hyperammonemia / genetics*
  • Muscular Diseases / genetics*
  • Organic Cation Transport Proteins / genetics*

Substances

  • Organic Cation Transport Proteins
  • Carnitine