Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

BACKGROUND: Glycogen storage disease (GSDs) is characterized by abnormally inherited glycogen metabolism. GSD IXd, which is caused by mutations in the PHKA1 gene, is an X-linked rare disease with mild myopathic symptoms. To date, only 13 patients with GSD IXd have been reported. In this study, we ai...

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Detalles Bibliográficos
Autores principales: Huang, Kun, Duan, Hui-Qian, Li, Qiu-Xiang, Luo, Yue-Bei, Bi, Fang-Fang, Yang, Huan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406516/
https://www.ncbi.nlm.nih.gov/pubmed/36034300
http://dx.doi.org/10.3389/fneur.2022.945280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406516/
https://www.ncbi.nlm.nih.gov/pubmed/36034300
http://dx.doi.org/10.3389/fneur.2022.945280

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