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MeSH Review

Glycogen Storage Disease Type VI

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Disease relevance of Glycogen Storage Disease Type VI


High impact information on Glycogen Storage Disease Type VI


Chemical compound and disease context of Glycogen Storage Disease Type VI

  • Two patients with autoimmune adrenalitis failed to respond to theophylline, although one was tested very early in the course of her disease [10].
  • An estimation of her daily diazinon dose and possible correlation with her disease was made [11].
  • Her disease remained active despite surgical resection, external beam irradiation and medical treatment with ketoconazole [5].
  • We report on a patient with bullous systemic lupus erythematosus who initially presented with lesions clinically resembling erythema multiforme, experienced exacerbation of her disease with dapsone, and had detectable circulating autoantibodies to the epidermolysis bullosa acquisita antigen [12].
  • Thus the extremely low C4 level during her disease may result from a combination of genetically determined low normal C4 and increased consumption/hyposynthesis secondary to her SLE [13].

Gene context of Glycogen Storage Disease Type VI

  • Her disease activity correlated with the dosage of IFN-alpha [14].
  • The level of VWF-cleaving protease activity in the patient was remarkably low (<5%) throughout her disease, even after she entered complete remission [15].
  • Pretreatment prolactin values, which were higher than normal, dramatically decreased by 90% in one patient who had a partial remission of her disease, and they further increased in another patient who relapsed while on therapy [16].
  • A 21-year-old woman with long-standing systemic lupus erythematosus developed extensive calcification of the soft tissues of the thoracic and abdominal walls and extremities early in her illness, and these calcifications gradually disappeared over the course of her disease [17].
  • A 71-year-old patient presented with SS and developed vitiligo during the course of her disease [18].

Analytical, diagnostic and therapeutic context of Glycogen Storage Disease Type VI


  1. Laboratory diagnosis of botulism complicated by pyridostigmine treatment of the patient. A method for selectively removing interfering substances from clinical specimens. Horwitz, M.A., Hatheway, C.L., Dowell, V.R. Am. J. Clin. Pathol. (1976) [Pubmed]
  2. Pulmonary haemorrhage, pulmonary infarction, and the lupus anticoagulant. Howe, H.S., Boey, M.L., Fong, K.Y., Feng, P.H. Ann. Rheum. Dis. (1988) [Pubmed]
  3. Late dissemination of pulmonary blastomycosis during ketoconazole therapy. Hebert, C.A., King, J.W., George, R.B. Chest (1989) [Pubmed]
  4. Endodermal sinus tumor. Report of a case with remission following chemotherapy. Ettinger, D.S., Parmley, T.H., Owellen, R.J., Davis, T.E. Obstetrics and gynecology. (1977) [Pubmed]
  5. Distinct clonal composition of primary and metastatic adrencorticotrophic hormone-producing pituitary carcinoma. Zahedi, A., Booth, G.L., Smyth, H.S., Farrell, W.E., Clayton, R.N., Asa, S.L., Ezzat, S. Clin. Endocrinol. (Oxf) (2001) [Pubmed]
  6. Wegener granulomatosis and trimethoprim-sulfamethoxazole. Complete remission after a twenty-year course. West, B.C., Todd, J.R., King, J.W. Ann. Intern. Med. (1987) [Pubmed]
  7. 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]
  8. POEMS syndrome with idiopathic flushing mimicking carcinoid syndrome. Myers, B.M., Miralles, G.D., Taylor, C.A., Gastineau, D.A., Pisani, R.J., Talley, N.J. Am. J. Med. (1991) [Pubmed]
  9. Vitamin B12 binding protein as a tumour marker for hepatocellular carcinoma. Kane, S.P., Murray-Lyon, I.M., Paradinas, F.J., Johnson, P.J., Williams, R., Orr, A.H., Kohn, J. Gut (1978) [Pubmed]
  10. The use of theophylline as an in vivo probe of adrenocortical function. Geffner, M.E., Lippe, B.M., Kaplan, S.A., Itami, R.M. J. Clin. Endocrinol. Metab. (1982) [Pubmed]
  11. Chronic organophosphate exposure associated with transient hypertonia in an infant. Wagner, S.L., Orwick, D.L. Pediatrics (1994) [Pubmed]
  12. Bullous systemic lupus erythematosus: an unusual clinical course and detectable circulating autoantibodies to the epidermolysis bullosa acquisita antigen. Barton, D.D., Fine, J.D., Gammon, W.R., Sams, W.M. J. Am. Acad. Dermatol. (1986) [Pubmed]
  13. Genetic basis of acquired C4 deficiency. Cream, J.J., Olaisen, B., Teisberg, P., Soler, A.V., Thompson, R.A. Clin. Genet. (1979) [Pubmed]
  14. Interferon-alpha therapy associated with the development of sarcoidosis. Pietropaoli, A., Modrak, J., Utell, M. Chest (1999) [Pubmed]
  15. Dissociation between the level of von Willebrand factor-cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura. Snider, C.E., Moore, J.C., Warkentin, T.E., Finch, C.N., Hayward, C.P., Kelton, J.G. Am. J. Hematol. (2004) [Pubmed]
  16. Hormonal changes induced by the pure antiandrogen flutamide in postmenopausal women with advanced breast cancer. Secreto, G., Recchione, C., Zambetti, M., Fariselli, G., Ballerini, P. European journal of cancer & clinical oncology. (1988) [Pubmed]
  17. Extensive soft tissue calcification (calcinosis universalis) in systemic lupus erythematosus. Weinberger, A., Kaplan, J.G., Myers, A.R. Ann. Rheum. Dis. (1979) [Pubmed]
  18. Pathogenetic mechanisms of vitiligo in a patient with Sézary syndrome. Knol, A.C., Quéreux, G., Marques-Briand, S., Pandolfino, M.C., Khammari, A., Guilloux, Y., Dreno, B. Br. J. Dermatol. (2005) [Pubmed]
  19. Squamous cell carcinoma arising in a mature cystic teratoma with metastasis to the paraaortic nodes. Rose, P.G., Tak, W.K., Reale, F.R. Gynecol. Oncol. (1993) [Pubmed]
  20. Low-grade endometrial stromal sarcoma arising from sciatic nerve endometriosis. Lacroix-Triki, M., Beyris, L., Martel, P., Marques, B. Obstetrics and gynecology. (2004) [Pubmed]
  21. A Philadelphia chromosome positive acute lymphoblastic leukemia of donor origin after allogeneic bone marrow transplantation for chronic myelogenous leukemia in chronic phase. Saito, Y., Uzuka, Y., Sakai, N., Suzuki, S., Toyota, T. Bone Marrow Transplant. (2000) [Pubmed]
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