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Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability

OBJECTIVES: This study aimed to describe the clinical and radiological characteristics of a cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD). METHODS: Three affected members from a family with cerebellar ataxia received full neurological, laboratory and radiological examina...

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Detalles Bibliográficos
Autores principales: Choi, Jae-Hwan, Kim, Hyun Sung, Oh, Eun Hye, Lee, Jae Hyeok, Cheon, Chong Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682283/
https://www.ncbi.nlm.nih.gov/pubmed/36438947
http://dx.doi.org/10.3389/fneur.2022.999419