- Abstract:
-
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 plasma- and lipid-containing tissues. The transport and biochemical pathways of phytanic acid metabolism have recently been defined with the cloning of two key enzymes, phytanoyl-CoA 2-hydroxylase (PAHX)...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1046/j.0022-3042.2002.00766.x
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- Journal:
- Journal of neurochemistry
- Volume:
- 80
- Issue:
- 5
- Pages:
- 727-735
- Publication date:
- 2002-03-05
- DOI:
- EISSN:
-
1471-4159
- ISSN:
-
0022-3042
- URN:
-
uuid:dae8b80b-9d84-4dca-ba8e-e8cccffd5f2e
- Source identifiers:
-
38187
- Local pid:
- pubs:38187
- Language:
- English
- Keywords:
- Copyright date:
- 2002
Journal article
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
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