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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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Institution:
University of Oxford
Division:
MPLS
Department:
Chemistry
Sub department:
Organic Chemistry
Role:
Author
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
Language:
English
Keywords:
Pubs id:
pubs:38187
UUID:
uuid:dae8b80b-9d84-4dca-ba8e-e8cccffd5f2e
Local pid:
pubs:38187
Deposit date:
2012-12-19

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