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A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia
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  • 作者:Changqing Zhen (1)
    Feng Guo (2)
    Xiaosheng Fang (1)
    Ying Liu (3)
    Xin Wang (1) (4)
  • 刊名:Neurological Sciences
  • 出版年:2014
  • 出版时间:September 2014
  • 年:2014
  • 卷:35
  • 期:9
  • 页码:1479-1481
  • 全文大小:698 KB
  • 参考文献:1. Huizing M, Krasnewich DM (2009) Hereditary inclusion body myopathy: a decade of progress. Biochim Biophys Acta 1792(9):881鈥?87 CrossRef
    2. Keppler OT, Hinderlich S, Langner J (1999) UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. Science 284(5418):1372鈥?376 CrossRef
    3. Crook M (1991) Sialic acid: its importance to platelet function in health and disease. Platelets 2(1):1鈥?0 CrossRef
    4. Kotze HF, van Wyk V, Badenhorst PN (1993) Influence of platelet membrane sialic acid and platelet-associated IgG on ageing and sequestration of blood platelets in baboons. Thromb Haemost 70(4):676鈥?80
    5. Ellies LG, Sperandio M, Underhill GH (2002) Sialyltransferase specificity in selectin ligand formation. Blood 100(10):3618鈥?625 CrossRef
    6. Jones C, Denecke J, Strater R, Stolting T (2011) A novel type of macrothrombocytopenia associated with a defect in alpha 2,3-sialylation. Am J Pathol 179(4):1969鈥?977 CrossRef
    7. Grewal PK, Uchiyama S, Ditto D, Varki N, Le DT, Nizet V, Marth JD (2008) The Ashwell receptor mitigates the lethal coagulopathy of sepsis. Nat Med 14(6):648鈥?55 CrossRef
  • 作者单位:Changqing Zhen (1)
    Feng Guo (2)
    Xiaosheng Fang (1)
    Ying Liu (3)
    Xin Wang (1) (4)

    1. Department of Hematology, Provincial Hospital Affiliated to Shandong University, Jinan, China
    2. Department of Pediatric Surgery, Provincial Hospital Affiliated to Shandong University, Jinan, China
    3. First Neurology Ward-Cerebral Vascular Disease, Shandong University Qilu Hospital, Jinan, China
    4. Department of Diagnostics, Shandong University School of Medicine, Jinan, China
  • ISSN:1590-3478
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