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

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

Abstract Background 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 between genotype and enzyme activity is a key feature. This case highli...

Full beskrivning

Bibliografiska uppgifter
Huvudupphovsmän: Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh
Materialtyp: Artikel
Språk:English
Publicerad: BMC 2024-03-01
Serie:BMC Pediatrics
Ämnen:
Pompe disease
Glycogen Storage Disease type II
Alpha-glucosidases
Family Planning services
Genetic counselling
Prenatal diagnosis
Länkar:https://doi.org/10.1186/s12887-024-04690-6

Internet

https://doi.org/10.1186/s12887-024-04690-6

Liknande verk