glycogen storage disease


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glycogen storage disease

[′glī·kə·jən ′stȯr·ij di‚zēz]
References in periodicals archive ?
Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II (in Chinese).
Multidisciplinary management of an obstetric patient with glycogen storage disease type 3.
A diagnosis of glycogen storage disease type 1a was made with increased amount of glycogen and decreased G6Pase activity in the liver biopsy specimens and/or mutation analysis in the G6Pase gene.
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
Glycogen storage diseases alone formed 24% of the total evaluated cases, all of them presenting with hepatomegaly.
He was remitted at 8 years of age to the Biochemistry unit due to family history of glycogen storage disease (first case).
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.
com 1,2,3,4,6,7; Spanish materials GLUTEN-SENSITIVE ENTEROPATHY See: Celiac Disease; Celiac Sprue; Gluten Intolerance GLYCOGEN STORAGE DISEASES See also: Hypoglycemia Association for Glycogen Storage Disease PO Box 896 Durant, IA 52747 (319) 785-6038 (voice/fax) 1,2,3,6,8,9 GLYCOGENOSES See: Glycogen Storage Diseases GLYCOSPHINGOLIPIDOSES See: Tay-Sachs Disease GOLDENHAR SYNDROME See also: Craniofacial Disorders Goldenhar Syndrome Research & Information Fund PO Box 61643 St.
Several types of parenchymal diseases can affect the liver,[11] including hepatic cirrhosis, fatty infiltration, hemochromatosis and glycogen storage disease.
Glycogen Storage Disease has been divided into at least 10 different types based on the deficiency of a particular enzyme which controls blood sugar levels.
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.

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