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MeSH Review

Glycogen Storage Disease Type I

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Disease relevance of Glycogen Storage Disease Type I


High impact information on Glycogen Storage Disease Type I


Biological context of Glycogen Storage Disease Type I


Gene context of Glycogen Storage Disease Type I


  1. Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M. Am. J. Hum. Genet. (1995) [Pubmed]
  2. The Mallory body: morphological, clinical and experimental studies (Part 1 of a literature survey). Jensen, K., Gluud, C. Hepatology (1994) [Pubmed]
  3. Continuous ambulatory peritoneal dialysis (CAPD) in a patient with glucose-6-phosphatase deficiency. Vandepitte, K., Lins, R.L., Daelemans, R., Zachée, P., Kuyken, C., De Broe, M.E. Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis. (1989) [Pubmed]
  4. Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats. Lattke, H., Koch, H.K., Lesch, R., Keppler, D.O. Virchows Arch., B, Cell Pathol. (1979) [Pubmed]
  5. The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Annabi, B., Hiraiwa, H., Mansfield, B.C., Lei, K.J., Ubagai, T., Polymeropoulos, M.H., Moses, S.W., Parvari, R., Hershkovitz, E., Mandel, H., Fryman, M., Chou, J.Y. Am. J. Hum. Genet. (1998) [Pubmed]
  6. Induction of altered hepatic foci in rats by the administration of hypolipidemic peroxisome proliferators alone or following a single dose of diethylnitrosamine. Glauert, H.P., Beer, D., Rao, M.S., Schwarz, M., Xu, Y.D., Goldsworthy, T.L., Coloma, J., Pitot, H.C. Cancer Res. (1986) [Pubmed]
  7. Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. Shelly, L.L., Lei, K.J., Pan, C.J., Sakata, S.F., Ruppert, S., Schutz, G., Chou, J.Y. J. Biol. Chem. (1993) [Pubmed]
  8. Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients. Parvari, R., Lei, K.J., Szonyi, L., Narkis, G., Moses, S., Chou, J.Y. Eur. J. Hum. Genet. (1997) [Pubmed]
  9. A new model for the membrane topology of glucose-6-phosphatase: the enzyme involved in von Gierke disease. Hemrika, W., Wever, R. FEBS Lett. (1997) [Pubmed]
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