Molecular study of Pompe disease in Egyptian infants

Molecular study of Pompe disease in Egyptian infants

Abstract Background Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 months old) with far lower than average normal GAA activity and clinica...

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Bibliographic Details
Main Authors: Mona Essawi, Nagham ElBagoury, Engy Ashaat, Wessam Sharaf-Eldin, Ekram Fateen
Format: Article
Language:English
Published: SpringerOpen 2021-11-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Pompe disease
Acid α-glucosidase
Molecular analysis
Pseudodeficiency allele
Online Access:https://doi.org/10.1186/s43042-021-00203-7

Internet

https://doi.org/10.1186/s43042-021-00203-7

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