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...

Descripción completa

Detalles Bibliográficos
Autores principales: Luo, Wen‐Jiao, Wei, Qiao, Dong, Hai‐Lin, Yan, Yang‐Tian, Chen, Mei‐Jiao, Li, Hong‐Fu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
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

Internet

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

Ejemplares similares