Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient
activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The …

Identification of variants in the acid α‐glucosidase (GAA) gene in Pompe disease provides
valuable insights and systematic overviews are needed. We report on the number, nature …

Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA)
deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues …

Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism
characterized by the lysosomal accumulation of partially or non-degraded molecules due to …

Lysosomal storage disorders (LSDs) are a very heterogeneous group of hereditary
disorders. The diagnostic process usually involves complex sampling, processing, testing …

Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the
activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA) …

Objectives The aim of this study was to describe the epidemiology of infantile Pompe
disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective …

Glycogen storage disease type II (GSDII) is a lysosomal storage disorder caused by acid
alpha-1, 4-glucosidase deficiency and associated with recessive mutations in its coding …

Cross-reactive immunological material (CRIM) status is an important prognostic factor in
patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy …

Pompe disease results from a defect in human acid α-glucosidase (GAA), a lysosomal
enzyme that cleaves terminal α1-4 and α1-6 glucose from glycogen. In Pompe disease (also …