Frequency of glycogen storage disease type II
in the Netherlands: Implications for diagnosis and genetic counselling.
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II
. Arch Iran Med.
Hermans et al., "Frequency of glycogen storage disease type II
in The Netherlands: implications for diagnosis and genetic counselling," European Journal of Human Genetics, vol.
Sandri, "Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II
patients," Autophagy, vol.
Effective enzyme replacement therapy is available for Pompe disease [also known as glycogen storage disease type II
, caused by acid [alpha]-glucosidase (GAA) deficiency], Fabry disease [[alpha]-galactosidase (GLA) deficiency], Hurler syndrome (mucopolysaccharidosis type I, [alpha]-iduronidase deficiency), Hunter disease (mucopolysaccharidosis type II, iduronate-2-sulfatase deficiency), Maroteaux-Lamy disease (mucopolysaccharidosis type VI, [alpha]-acetylgalactosamine 4-sulfatase deficiency), and Gaucher disease (glucocerebrosidase deficiency) (5, 6).
Glycogen storage disease type II
: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.