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

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

Abstract 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...

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Bibliographic Details
Main Authors: Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Italian Journal of Pediatrics
Subjects:
Pompe disease
Glycogen storage disease type II
Acid maltase deficiency
Intrauterine onset
Online Access:https://doi.org/10.1186/s13052-022-01379-3

Internet

https://doi.org/10.1186/s13052-022-01379-3

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