Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Refsum's disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, anosmia, deafness, sensory neuropathy, ataxia and accumulation of phytanic acid in p...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2002
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