Rosentreter, A., Gaki, S., Dinslage, S. and Dietlein, T. S. (2012). Juvenile glaucoma in propionic acidemia. Ophthalmologe, 109 (12). S. 1211 - 1214. NEW YORK: SPRINGER. ISSN 0941-293X
Full text not available from this repository.Abstract
Propionic acidemia (PA) is a rare autosomal recessive disorder resulting from deficiency of the biotin-dependent enzyme propionyl-CoA carboxylase, which is necessary for the catabolism of branched chain amino acids and odd-chain fatty acids. Although optic atrophy was documented in four cases, no glaucomatous optic atrophy has yet been described. This article describes the first case of a 12-year-old boy with PA showing bilateral glaucomatous optic disc atrophy due to dysgenetic changes of the angle of the anterior chamber.
| Item Type: | Journal Article | ||||||||||||||||||||
| Creators: |
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| URN: | urn:nbn:de:hbz:38-477548 | ||||||||||||||||||||
| DOI: | 10.1007/s00347-012-2596-x | ||||||||||||||||||||
| Journal or Publication Title: | Ophthalmologe | ||||||||||||||||||||
| Volume: | 109 | ||||||||||||||||||||
| Number: | 12 | ||||||||||||||||||||
| Page Range: | S. 1211 - 1214 | ||||||||||||||||||||
| Date: | 2012 | ||||||||||||||||||||
| Publisher: | SPRINGER | ||||||||||||||||||||
| Place of Publication: | NEW YORK | ||||||||||||||||||||
| ISSN: | 0941-293X | ||||||||||||||||||||
| Language: | German | ||||||||||||||||||||
| Faculty: | Unspecified | ||||||||||||||||||||
| Divisions: | Unspecified | ||||||||||||||||||||
| Subjects: | no entry | ||||||||||||||||||||
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| URI: | http://kups.ub.uni-koeln.de/id/eprint/47754 |
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