Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency

J Genet. 2015 Mar;94(1):147-50. doi: 10.1007/s12041-015-0486-0.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / genetics
  • Carnitine / deficiency*
  • Carnitine / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Humans
  • Hyperammonemia / diagnosis*
  • Hyperammonemia / genetics
  • Infant, Newborn
  • Male
  • Molecular Diagnostic Techniques
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics
  • Mutation, Missense
  • Neonatal Screening
  • Organic Cation Transport Proteins / genetics
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Solute Carrier Family 22 Member 5

Substances

  • Organic Cation Transport Proteins
  • SLC22A5 protein, human
  • Solute Carrier Family 22 Member 5
  • Carnitine

Supplementary concepts

  • Systemic carnitine deficiency