Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

OBJECTIVE: Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients. METHODS:...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Li, Yan, Huifang, Cao, Binbin, Wu, Ye, Gu, Qiang, Xiao, Jiangxi, Yang, Yanling, Yang, Huixia, Shi, Zhen, Yang, Zhixian, Pan, Hong, Chang, Xingzhi, Chen, Junya, Sun, Yu, Zhang, Yuehua, Wu, Xiru, Jiang, Yuwu, Wang, Jingmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051075/
https://www.ncbi.nlm.nih.gov/pubmed/30057904
http://dx.doi.org/10.1155/2018/2361068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051075/
https://www.ncbi.nlm.nih.gov/pubmed/30057904
http://dx.doi.org/10.1155/2018/2361068

Ejemplares similares