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.
journal_name
Neurologyjournal_title
Neurologyauthors
Horn MA,van den Brink DM,Wanders RJ,Duran M,Poll-The BT,Tallaksen CM,Stokke OH,Moser H,Skjeldal OHdoi
10.1212/01.wnl.0000255960.01644.39subject
Has Abstractpub_date
2007-02-27 00:00:00pages
698-700issue
9eissn
0028-3878issn
1526-632Xpii
68/9/698journal_volume
68pub_type
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