CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

Eur J Hum Genet. 2020 Jul;28(7):982-987. doi: 10.1038/s41431-020-0616-x. Epub 2020 Apr 2.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Hyperammonemia / epidemiology
  • Hyperammonemia / genetics*
  • Hyperammonemia / pathology
  • Mitochondrial Membrane Transport Proteins / genetics
  • Mutation
  • Ornithine / deficiency*
  • Ornithine / genetics
  • Phenotype
  • Sensitivity and Specificity
  • Urea Cycle Disorders, Inborn / epidemiology
  • Urea Cycle Disorders, Inborn / genetics*
  • Urea Cycle Disorders, Inborn / pathology

Substances

  • Mitochondrial Membrane Transport Proteins
  • SLC25A15 protein, human
  • Ornithine

Supplementary concepts

  • HHH syndrome