glycogen storage disease

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glycogen storage disease

[′glī·kə·jən ′stȯr·ij di‚zēz]

(medicine)

von Gierke's disease

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References in periodicals archive ?

Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.

A New Mutation Causing Severe InfantileOnset Pompe Disease Responsive to Enzyme Replacement Therapy

Reuser, "Glycogen storage disease type II: acid alpha glucosidase (acid maltase) deficiency," in The Metabolic and Molecular Bases of Inherited Disease, A.

An 18-Month-Old Child with Infantile Pompe Disease: Oral Signs

Donnarumma et al., "Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II," Human Mutation, vol.

Clinical Analysis of Algerian Patients with Pompe Disease

et al, High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

A rare metabolic disorder: Pompe's disease

The researchers conservatively estimate that about one in 2,500 people in Nunavik may have glycogen storage disease type Ilia.

A genetic mutation responsible for glycogen storage

Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus.

Unique glucose-6-phosphatase, catalytic subunit mutation in a child with type Ia glycogen storage disease in Taiwan

The electrodiagnostic characteristics of Glycogen storage disease type III.

Glycogen storage disease type 3: a management challenge in pregnancy

Sandri, "Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients," Autophagy, vol.

Antioxidant supplement inhibits skeletal muscle constitutive autophagy rather than fasting-induced autophagy in mice

The history of the glycogen storage diseases. Eur J Pediatr.

Errores innatos del metabolismo y anestesia; tan lejos y sin embargo tan cerca

Glycogen storage disease type 1 (GDH 1) is a metabolic disease which occurs as a result of dysfunction in glucose 6 phosphatase (G6Paz) system.

Clinical properties and disease prognosis in cases of glycogen-storage disease type 1a and type 1b

Glycogen Storage Disease, Type III (Cori's Disease or Forbes Disease)

Moment's guide to Jewish genetic diseases

Acute pancreatitis after anesthesia with propofol in a child with glycogen storage disease type IA.