Glycogen storage disease (redirect from Glycogenosis)
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting...
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type VIII Glycogenosis Glycogenosis type II Glycogenosis type III Glycogenosis type IV Glycogenosis type V Glycogenosis type VI Glycogenosis type VII Glycogenosis...
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deficiency Glycogenosis type 1a Glycogenosis type 1b Glycogenosis type 3 Glycogenosis type 6 Glycogenosis type 9a Glycogenosis type 9b Glycogenosis type 9c...
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Glycogen storage disease type V (redirect from Glycogenosis type V)
1987). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". The New England Journal of Medicine. 317 (2):...
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Glycogen storage disease type IV (redirect from Glycogenosis type IV)
literature for the disease include:[citation needed] Andersen's triad Glycogenosis type IV Glycogen branching enzyme deficiency Polyglucosan body disease...
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glycogen in lung biopsy specimens of infants with pulmonary interstitial glycogenosis (PIG). It can be used to highlight super cross-linked lipids inclusions...
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Library of Medicine. Willems P (Sep 1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin Genet. 38 (1): 80. doi:10...
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Glycogen storage disease type 0 (redirect from Glycogenosis, type 0)
Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency...
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Fanconi–Bickel syndrome (redirect from Glycogenosis type 11)
Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, who first described it in 1949. It is associated...
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phosphorolysis, by the enzyme glycogen phosphorylase. In the muscles, glycogenosis begins due to the binding of cAMP to phosphorylate kinase, converting...
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Glycogen storage disease type II (redirect from Glycogenosis type II)
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal...
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Phosphofructokinase deficiency (redirect from Glycogenosis type VII)
(1965). "Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis". Biochem. Biophys. Res. Commun. 19 (4): 517–523. doi:10.1016/0006-291X(65)90156-7...
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"Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)". Neurology. 63 (6): 1053–1058. doi:10.1212/01.wnl.0000138429...
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Glycogen storage disease type VI (redirect from Glycogenosis type VI)
Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components...
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Glycogen storage disease type III (redirect from Glycogenosis type III)
Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates)...
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1007/s00247-008-0941-7. PMID 18685841. S2CID 22012119. "Mucopolysaccharidosis type I". "Glycogenosis type II and Pompe's disease". Archived from the original on 23 November...
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as glycogen storage disease type 14 (GSD XIV). The disease is both a glycogenosis and a congenital disorder of glycosylation. It is also a metabolic myopathy...
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Tarui S. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med. 1987 Jul 9;317(2):75-80. doi: 10...
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(1987-07-09). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". The New England Journal of Medicine. 317 (2):...
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mechanical forces prevalent in bone, cardiac, and endothelial tissue. Glycogenosis type IV Amflora, a genetically modified potato high in amylopectin (low...
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Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT (1995). "Glycogenosis type II (acid maltase deficiency)". Muscle & Nerve. Supplement. 3: S61-9...
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(1987-07-09). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". The New England Journal of Medicine. 317 (2):...
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Beta-thalassemia Bethlem myopathy Bhaskar Jagannathan syndrome Bickel Fanconi glycogenosis Bicuspid aortic valve Bidirectional tachycardia Biemond syndrome Biemond...
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PRKAG2 gene have been traced to fatal congenital nonlysosomal cardiac glycogenosis; PRKAG2 is a noncatalytic gamma subunit of AMP-activated protein kinase...
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control is attempted. Another aspect of this phenomenon occurs in type I glycogenosis, when chronic hypoglycemia before diagnosis may be better tolerated than...
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"Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI". American Journal of Human Genetics. 62 (4): 785–91. doi:10...
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correlated with the increased amount of PFKL. Deficiency in PFK leads to glycogenosis type VII (Tarui's disease), an autosomal recessive disorder characterised...
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(1985). "Pathologic studies of the osteoporosis of Von Gierke's disease (glycogenosis 1a)". Pediatric Pathology. 3 (2–4): 307–319. doi:10.3109/15513818509078791...
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Hokezu Y, Nagamatsu K, Nakagawa M, Osame M, Ohnishi A (June 1983). "[Glycogenosis type III with peripheral nerve disorder and muscular hypertrophy in an...
51 KB (5,290 words) - 14:37, 30 October 2024
(October 1965). "The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-α-1,4-glucan glucohydrolase in human tissues"...
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