glycogen storage disease


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glycogen storage disease

[′glī·kə·jən ′stȯr·ij di‚zēz]
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Novel mutations in African American patients with glycogen storage disease type II.
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.
Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
Glycogen storage disease type 1 is a severe autosomal recessive metabolic disease which affects carbonhydrate and purin metabolism.
It was observed that the presenting complaints and findings of the patients were similar to our study in a study (ESGSD I) performed in 288 GSD 1 patients (231 GDS 1a and 57 GSD 1b patients) from 12 European countries to examine the clinical prognosis of glycogen storage disease 1 in the long-term, to establish a protocol for diagnosis and follow-up and to improve treatment methods (14).
Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.
Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease.
Type I Glycogen Storage Disease is a deficiency of the enzyme glucose -6 - phosphatase which helps in maintaining a normal blood glucose (sugar concentration) during fasting.
A diagnosis of glycogen storage disease was made as a result of histopathologic examination by liver needle biopsy in the patients who were being followed up in Akdeniz University Medical Faculty, Division of Pediatric Gastroenterology, Hepatology and Nutrition.
2] gangliosidoses, neutral glycosphingolipidoses, glycoproteinoses, mucolipidoses, leukodystrophies, glycogen storage diseases, disorders of neutral lipids, and disorders of protein transport or trafficking (22, 23).
congenital or inherited conditions glycogen storage diseases -- inability to properly utilize sugars alpha 1 antitrypsin deficiency -- inherited absence of a specific enzyme in the liver
Rowland LP, DiMauro S: Glycogen storage diseases of muscle: genetic problems.

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