Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review

BACKGROUND: Pompe disease is usually considered in children with elevated creatine kinase (CK) levels and decreased acidic α-glucosidase (GAA) enzyme activity. However, there are exceptions, such as GAA pseudo deficiency alleles, which result in lower GAA enzyme activity but do not cause Pompe disea...

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Detalles Bibliográficos
Autores principales: He, Xiufang, Li, Xuandi, Lin, Yuese, Ba, Hongjun, Peng, Huimin, Zhang, Lili, Zhu, Ling, Qin, Youzhen, Li, Shujuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9200123/
https://www.ncbi.nlm.nih.gov/pubmed/35722482
http://dx.doi.org/10.3389/fped.2022.855510

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9200123/
https://www.ncbi.nlm.nih.gov/pubmed/35722482
http://dx.doi.org/10.3389/fped.2022.855510

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