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Red cell glutathione in Leber's optic atrophy.

Abstract
Red cell glutathione has been assayed in a family affected by Leber's optic atrophy. The results are in agreement with a defective cyanide metabolism. The transmission mechanism of the disease is discussed. Lastly, a preventive and therapeutic approach is proposed.
AuthorsL Cotticelli, E Rinaldi, L D'Alessandro, S Russo, T Libondi, C Costagliola
JournalMetabolic ophthalmology, pediatric and systemic (Metab Ophthalmol) 1984-1985 Vol. 8 Issue 1 Pg. 31-4 ISSN: 0883-9522 [Print] United States
PMID6521627 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Cyanides
  • Methionine
  • Glutathione
  • Cysteine
  • Hydroxocobalamin
Topics
  • Adult
  • Cyanides (metabolism)
  • Cysteine (therapeutic use)
  • Diet
  • Erythrocytes (metabolism)
  • Glutathione (blood)
  • Humans
  • Hydroxocobalamin (therapeutic use)
  • Male
  • Metabolism, Inborn Errors (drug therapy)
  • Methionine (therapeutic use)
  • Optic Atrophy (blood, drug therapy, genetics)
  • Pedigree
  • Smoking

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