| Literature DB >> 17325280 |
M A Horn1, D M van den Brink, R J A Wanders, M Duran, B T Poll-The, C M E Tallaksen, O H Stokke, H Moser, O H Skjeldal.
Abstract
The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, we propose the subdivision of ARD into type 1 and type 2, depending on which gene is defective.Entities:
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Year: 2007 PMID： 17325280 DOI： 10.1212/01.wnl.0000255960.01644.39
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910