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Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy
BACKGROUND: X‐linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long‐chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1. Clinically, ALD present with various phenotypes, ranging from asym...
Autores principales: | Luo, Wen‐Jiao, Wei, Qiao, Dong, Hai‐Lin, Yan, Yang‐Tian, Chen, Mei‐Jiao, Li, Hong‐Fu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978395/ https://www.ncbi.nlm.nih.gov/pubmed/31777199 http://dx.doi.org/10.1002/mgg3.1065 |
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