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Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

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 report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white...

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Detalles Bibliográficos
Autores principales:	Kang, Joon Won, Lee, Sang Mi, Koo, Kyo Yeon, Lee, Young-Mock, Nam, Hyo Suk, Quan, Zhejiu, Kang, Hoon-Chul
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Yonsei University College of Medicine 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075381/ https://www.ncbi.nlm.nih.gov/pubmed/24954351 http://dx.doi.org/10.3349/ymj.2014.55.4.1157

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