Deletion of exon 18 is a frequent mutation in
glycogen storage disease type II.
Reuser, "
Glycogen storage disease type II: acid alpha glucosidase (acid maltase) deficiency," in The Metabolic and Molecular Bases of Inherited Disease, A.
Donnarumma et al., "Mutation profile of the GAA gene in 40 Italian patients with late onset
glycogen storage disease type II," Human Mutation, vol.
et al, High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for
glycogen storage disease type II in the Japanese population.
The researchers conservatively estimate that about one in 2,500 people in Nunavik may have
glycogen storage disease type Ilia.
Genetic basis of
glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus.
The electrodiagnostic characteristics of
Glycogen storage disease type III.
Sandri, "Impaired autophagy contributes to muscle atrophy in
glycogen storage disease type II patients," Autophagy, vol.
Glycogen storage disease type 1 (GDH 1) is a metabolic disease which occurs as a result of dysfunction in glucose 6 phosphatase (G6Paz) system.
Glycogen Storage Disease, Type III (Cori's Disease or Forbes Disease)
Acute pancreatitis after anesthesia with propofol in a child with
glycogen storage disease type IA.