Journal article
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
- 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)...
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- Publication status:
- Published
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- Publisher copy:
- 10.1046/j.0022-3042.2002.00766.x
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Bibliographic Details
- Journal:
- Journal of neurochemistry
- Volume:
- 80
- Issue:
- 5
- Pages:
- 727-735
- Publication date:
- 2002-03-01
- DOI:
- EISSN:
-
1471-4159
- ISSN:
-
0022-3042
- Source identifiers:
-
38187
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:38187
- UUID:
-
uuid:dae8b80b-9d84-4dca-ba8e-e8cccffd5f2e
- Local pid:
- pubs:38187
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2002
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