A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia

X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-A...

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Detalles Bibliográficos
Autores principales: Chen, Yanxing, Zhang, Jianfang, Wang, Jianwen, Wang, Kang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925604/
https://www.ncbi.nlm.nih.gov/pubmed/29740390
http://dx.doi.org/10.3389/fneur.2018.00271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925604/
https://www.ncbi.nlm.nih.gov/pubmed/29740390
http://dx.doi.org/10.3389/fneur.2018.00271

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