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Refsum Disease Presenting with a Late-Onset Leukodystrophy
Adult Refsum disease is an autosomal recessive peroxisomal disorder characterized by phytanic acid storage. Clinical symptoms usually begin in late childhood before the age of 20. Typical clinical presentation includes nyctalopia caused by retinitis pigmentosa, and anosmia. After 10–15 years, deafne...
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| Udgivet i: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer Berlin Heidelberg
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4501234/ https://ncbi.nlm.nih.gov/pubmed/25604618 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_355 |
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