Retinal degeneration

Ophthalmology. 2009 Aug;116(8):1593, 1593.e1. doi: 10.1016/j.ophtha.2009.03.039.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amino Acid Transport Systems, Basic / genetics
  • Cataract / etiology
  • Citrulline / analogs & derivatives*
  • Citrulline / urine
  • Consanguinity
  • Creatine / blood
  • Diet, Protein-Restricted
  • Female
  • Humans
  • Hyperammonemia / blood
  • Hyperammonemia / complications*
  • Hyperammonemia / genetics
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / genetics
  • Mitochondrial Membrane Transport Proteins
  • Ornithine / blood*
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / etiology*
  • Syndrome
  • Vision Disorders / etiology

Substances

  • Amino Acid Transport Systems, Basic
  • Mitochondrial Membrane Transport Proteins
  • SLC25A15 protein, human
  • homocitrulline
  • Citrulline
  • Ornithine
  • Creatine