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Glycogen Storage Disease

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Disease relevance of Glycogen Storage Disease


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Biological context of Glycogen Storage Disease


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Gene context of Glycogen Storage Disease


Analytical, diagnostic and therapeutic context of Glycogen Storage Disease


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  2. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J.E., Oh, S.J., Koga, Y., Sue, C.M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. Nature (2000) [Pubmed]
  3. Muscle phosphofructokinase deficiency. Biochemical and immunological studies of phosphofructokinase isozymes in muscle culture. Davidson, M., Miranda, A.F., Bender, A.N., DiMauro, S., Vora, S. J. Clin. Invest. (1983) [Pubmed]
  4. Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production. Cohen, J.L., Vinik, A., Faller, J., Fox, I.H. J. Clin. Invest. (1985) [Pubmed]
  5. Hepatic microsomal glucose-6-phosphatase system and sudden infant death syndrome. Burchell, A., Bell, J.E., Busuttil, A., Hume, R. Lancet (1989) [Pubmed]
  6. Effects in vivo of food deprivation and 3-mercaptopicolinate in the glycogen-storage-disease (gsd/gsd) rat. Clark, D.G., Brinkman, M., Neville, S.D., Haynes, W.D. Biochem. J. (1985) [Pubmed]
  7. The human embryonic-fetal kidney endoplasmic reticulum phosphate-pyrophosphate transport protein. Hume, R., Brewerton, H., Burchell, A. Virchows Arch. (1996) [Pubmed]
  8. Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. Lei, K.J., Chen, H., Pan, C.J., Ward, J.M., Mosinger, B., Lee, E.J., Westphal, H., Mansfield, B.C., Chou, J.Y. Nat. Genet. (1996) [Pubmed]
  9. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Schneider, A., Davidson, J.J., Wüllrich, A., Kilimann, M.W. Nat. Genet. (1993) [Pubmed]
  10. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. Mineo, I., Kono, N., Hara, N., Shimizu, T., Yamada, Y., Kawachi, M., Kiyokawa, H., Wang, Y.L., Tarui, S. N. Engl. J. Med. (1987) [Pubmed]
  11. Optimal rate of enteral glucose administration in children with glycogen storage disease type I. Schwenk, W.F., Haymond, M.W. N. Engl. J. Med. (1986) [Pubmed]
  12. Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII. Mineo, I., Kono, N., Shimizu, T., Hara, N., Yamada, Y., Sumi, S., Nonaka, K., Tarui, S. J. Clin. Invest. (1985) [Pubmed]
  13. A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Veiga-da-Cunha, M., Gerin, I., Chen, Y.T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C.D., Lee, P.J., Leonard, J.V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., Van Schaftingen, E. Am. J. Hum. Genet. (1998) [Pubmed]
  14. DDAVP infusion in five patients with type Ia glycogen storage disease and associated correction of prolonged bleeding times. Marti, G.E., Rick, M.E., Sidbury, J., Gralnick, H.R. Blood (1986) [Pubmed]
  15. Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice. Sun, M.S., Pan, C.J., Shieh, J.J., Ghosh, A., Chen, L.Y., Mansfield, B.C., Ward, J.M., Byrne, B.J., Chou, J.Y. Hum. Mol. Genet. (2002) [Pubmed]
  16. A conformational model for the human liver microsomal glucose-6-phosphatase system: evidence from rapid kinetics and defects in glycogen storage disease type 1. St-Denis, J.F., Comte, B., Nguyen, D.K., Seidman, E., Paradis, K., Lévy, E., van de Werve, G. J. Clin. Endocrinol. Metab. (1994) [Pubmed]
  17. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Burwinkel, B., Amat, L., Gray, R.G., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R.J., Vilaseca, M.A., Kilimann, M.W. Hum. Genet. (1998) [Pubmed]
  18. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). Burwinkel, B., Moses, S.W., Kilimann, M.W. Hum. Genet. (1997) [Pubmed]
  19. A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. Chen, Y.T. Hum. Genet. (1999) [Pubmed]
  20. Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib. Bashan, N., Hagai, Y., Potashnik, R., Moses, S.W. J. Clin. Invest. (1988) [Pubmed]
  21. Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Kuijpers, T.W., Maianski, N.A., Tool, A.T., Smit, G.P., Rake, J.P., Roos, D., Visser, G. Blood (2003) [Pubmed]
  22. Erythrocyte glycolysis and its marked alterations by muscular exercise in type VII glycogenosis. Shimizu, T., Kono, N., Kiyokawa, H., Yamada, Y., Hara, N., Mineo, I., Kawachi, M., Nakajima, H., Wang, Y.L., Tarui, S. Blood (1988) [Pubmed]
  23. Overexpression of insulin receptor substrate-1 emerges early in hepatocarcinogenesis and elicits preneoplastic hepatic glycogenosis. Nehrbass, D., Klimek, F., Bannasch, P. Am. J. Pathol. (1998) [Pubmed]
  24. Localization of dystrophin and beta-spectrin in vacuolar myopathies. De Bleecker, J.L., Engel, A.G., Winkelmann, J.C. Am. J. Pathol. (1993) [Pubmed]
  25. Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. Hendrickx, J., Lee, P., Keating, J.P., Carton, D., Sardharwalla, I.B., Tuchman, M., Baussan, C., Willems, P.J. Am. J. Hum. Genet. (1999) [Pubmed]
  26. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. Raben, N., Exelbert, R., Spiegel, R., Sherman, J.B., Nakajima, H., Plotz, P., Heinisch, J. Am. J. Hum. Genet. (1995) [Pubmed]
  27. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Burwinkel, B., Scott, J.W., Bührer, C., van Landeghem, F.K., Cox, G.F., Wilson, C.J., Grahame Hardie, D., Kilimann, M.W. Am. J. Hum. Genet. (2005) [Pubmed]
  28. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Burwinkel, B., Bakker, H.D., Herschkovitz, E., Moses, S.W., Shin, Y.S., Kilimann, M.W. Am. J. Hum. Genet. (1998) [Pubmed]
  29. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M.W. Hum. Mol. Genet. (1998) [Pubmed]
  30. Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy. Martin-Touaux, E., Puech, J.P., Château, D., Emiliani, C., Kremer, E.J., Raben, N., Tancini, B., Orlacchio, A., Kahn, A., Poenaru, L. Hum. Mol. Genet. (2002) [Pubmed]
  31. Bovine generalised glycogenosis type II. Uptake of lysosomal alpha-glucosidase by cultured skeletal muscle and reversal of glycogen accumulation. Di Marco, P.N., Howell, J.M., Dorling, P.R. FEBS Lett. (1985) [Pubmed]
  32. Hepatocellular carcinoma and focal hepatic glycogenosis after prolonged azathioprine therapy. Cattan, S., Wendum, D., Chazouilleres, O., Schmitz, J., Gendre, J.P. Hum. Pathol. (2000) [Pubmed]
  33. Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency. Suhara, Y., Ishiura, S., Tsukahara, T., Sugita, H. Muscle Nerve (1989) [Pubmed]
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