Article

Genotype-Phenotype correlation of 17 cases of Pompe Disease in Spanish Patients and Identification of 4 Novel Mutations

2020-12-23

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Pompe disease (PD) is an autosomal recessive metabolic disorder caused by mutations in the acid α-glucosidase gene (<italic>GAA</italic>) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic variations and clinical features in Spanish subjects to establish genotype-phenotype correlation.<bold>Methods: </bold>A total of 2709...

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Literature Corpus work: 35145212-508a-5cc4-8b6a-945bccfb272e
DOI: 10.21203/rs.3.rs-133653/v1

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