Phenotypes of X-linked adrenoleukodystrophy in The Netherlands
β Scribed by Bjorn van Geel
- Publisher
- Springer-Verlag
- Year
- 1996
- Tongue
- English
- Weight
- 177 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1044-7393
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π SIMILAR VOLUMES
## X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal β€-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), adolescent cerebral (AdolCALD), adult cerebral (ACAL
Our objective was to review the Australasian experience of X-linked adrenoleukodystrophy (ALD), to compare the spectrum of disease seen in Australasia with previously published data from elsewhere, and to assess the reliability of carrier testing. Study design was a retrospective review of records c