| Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. | |
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MedLine Citation:
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PMID: 20850855 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis, and cardiac abnormalities. A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. In order to be able to apply dietary therapy, as many patients as possible (even better if all of them are) have to be identified at an early stage. The ophthalmologist plays a crucial role in achieving this goal because of the early manifestation of the tapetoretinal degeneration. |
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Authors:
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Klaus Rüether; Eleanor Baldwin; Minne Casteels; Michael D Feher; Morten Horn; Susan Kuranoff; Bart P Leroy; Ronald J Wanders; Anthony S Wierzbicki |
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Publication Detail:
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Type: Journal Article; Review Date: 2010-09-20 |
Journal Detail:
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Title: Survey of ophthalmology Volume: 55 ISSN: 1879-3304 ISO Abbreviation: Surv Ophthalmol Publication Date: 2010 Nov-Dec |
Date Detail:
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Created Date: 2010-10-11 Completed Date: 2010-12-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0404551 Medline TA: Surv Ophthalmol Country: United States |
Other Details:
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Languages: eng Pagination: 531-8 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Charité-Eye Hospital, Campus Virchow-Klinikum, Berlin, Germany. klaus.ruether@charite.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Humans Phytanic Acid / blood Refsum Disease* / diagnosis, therapy Retinitis Pigmentosa* / diagnosis, etiology, therapy |
| Chemical | |
Reg. No./Substance:
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14721-66-5/Phytanic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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