Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation ...

Source: BMC Pediatrics - March 18, 2024 Category: Pediatrics Authors: Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi and Leila Kamalzadeh Tags: Case Report Source Type: research