Infantile Pompe disease with intrauterine onset: a case report and literature review

BACKGROUND: Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions. Pompe disease is progressive, and its severity depends on the age of onset. Classic infantile Pompe d...

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Detalles Bibliográficos
Autores principales: Xi, Hongmin, Li, Xianghong, Ma, Lili, Yin, Xiangyun, Yang, Ping, Zhang, Lulu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9677902/
https://www.ncbi.nlm.nih.gov/pubmed/36411466
http://dx.doi.org/10.1186/s13052-022-01379-3

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