Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

Abstract Background Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic variations and clinical features in Spanish subjects to e...

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Bibliographic Details
Main Authors: Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Pompe disease
Genotype–phenotype correlation
GAA gene
Alpha-glucosidase enzyme
Online Access:https://doi.org/10.1186/s13023-021-01864-8

Internet

https://doi.org/10.1186/s13023-021-01864-8

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