Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is the most frequent type of inherited demyelinating peroxisomal disease caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1) gene. The rate of early recognition and genetic diagnosis of X-ALD remains low due to its variable clinical mani...

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Detalles Bibliográficos
Autores principales: Jia, Ming-Rui, Wu, Wen-Zhen, Li, Chuan-Ming, Cai, Xiao-Hui, Zhang, Lin, Yan, Fang, Zhu, Chan, Gu, Ming-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704587/
https://www.ncbi.nlm.nih.gov/pubmed/31452695
http://dx.doi.org/10.3892/etm.2019.7804

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704587/
https://www.ncbi.nlm.nih.gov/pubmed/31452695
http://dx.doi.org/10.3892/etm.2019.7804

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