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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| 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 |