Rod–Cone Dystrophy with Maculopathy in Genetic Glutathione Synthetase Deficiency
| Autor: | Lillemor Wachtmeister, Ellinor Ristoff, Agne Larsson, Marie Burstedt |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
medicine.medical_specialty
biology business.industry Dystrophy Retinal Glutathione medicine.disease Glutathione synthetase deficiency Glutathione synthase eye diseases Glutathione synthetase Ophthalmology chemistry.chemical_compound Endocrinology chemistry Internal medicine medicine biology.protein Rod-cone dystrophy Maculopathy business human activities |
| Zdroj: | Ophthalmology. 116:324-331 |
| ISSN: | 0161-6420 |
| DOI: | 10.1016/j.ophtha.2008.09.007 |
| Popis: | PURPOSE: To describe the retinal findings in 2 young adults with glutathione synthetase (GS) deficiency, an autosomal-recessive inborn error of glutathione (GSH) metabolism. DESIGN: Report of 2 cas ... |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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