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Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report

BACKGROUND: Pompe disease has a broad disease spectrum, including infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) forms. It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease, for an estimated incidence of 1/40000 among the neonatal popul...

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Detalles Bibliográficos
Autores principales: Zhang, Ying, Zhang, Cheng, Shu, Jian-Bo, Zhang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082720/
https://www.ncbi.nlm.nih.gov/pubmed/35603335
http://dx.doi.org/10.12998/wjcc.v10.i10.3278