Molecular study of Pompe disease in Egyptian infants

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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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Detalles Bibliográficos
Autores principales:	Mona Essawi, Nagham ElBagoury, Engy Ashaat, Wessam Sharaf-Eldin, Ekram Fateen
Formato:	article
Lenguaje:	EN
Publicado:	SpringerOpen 2021
Materias:	Pompe disease Acid α-glucosidase Molecular analysis Pseudodeficiency allele Medicine (General) R5-920 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e09
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

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