glycogen storage disease


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glycogen storage disease

[′glī·kə·jən ′stȯr·ij di‚zēz]
References in periodicals archive ?
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.
The history of the glycogen storage diseases. Eur J Pediatr.
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.

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