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.
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Authors | L Cotticelli, E Rinaldi, L D'Alessandro, S Russo, T Libondi, C Costagliola |
Journal | Metabolic ophthalmology, pediatric and systemic
(Metab Ophthalmol)
1984-1985
Vol. 8
Issue 1
Pg. 31-4
ISSN: 0883-9522 [Print] United States |
PMID | 6521627
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Cyanides
- Methionine
- Glutathione
- Cysteine
- Hydroxocobalamin
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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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