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

Internet

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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