| Identifier |
19960213_nanos_sciplatform3_06 |
| Title |
Refsum Disease - A Case with Oligosymptomatic Presentation |
| Creator |
Maja Steinlin; G. Niemeyer; R. J. A. Wanders; R. B. H. Schutgens; E. Boltshauser |
| Affiliation |
Zurich, Switzerland |
| Subject |
Refsum Disease; Oligosymtomatic Presentation; Heredopathia Atactica Polyneuritiformis; Dietary Treatment |
| Description |
Refsum disease (heredopathia atactica polyneuritiformis) is a rare recessively inherited disease affecting phytanic acid metabolism. It causes retinitis pigmentosa (RP), cataracts, anosmia, chronic polyneuropathy, cerebellar ataxia among other symptoms. |
| Date |
1996-02-13 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
1996 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 1996: Science Platform Presentations (Session 3) |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 1996. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s690599z |
| Setname |
ehsl_novel_nam |
| ID |
182550 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s690599z |
