- Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation
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Kang JW, Lee SM, Koo KY, Lee YM, Nam HS, Quan Z, Kang HC
- KMID: 2130847
- Yonsei Med J.
- 2014 Jul;55(4):1157-1160.
- doi: 10.3349/ymj.2014.55.4.1157
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We... -
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