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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
Department:
Oxford, MPLS, Chemistry, Organic Chemistry
Role:
Author
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

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