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Progress in genetic diagnosis and management of glycogen storage disease typeⅡ

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Tianjin Huanhu Hospital, 2014.
    • الموضوع:
      2014
    • Collection:
      LCC:Neurology. Diseases of the nervous system
    • نبذة مختصرة :
      Glycogen storage disease type Ⅱ (GSD Ⅱ) is a rare autosomal recessive hereditary metabolic disorder characterized by progressive atrophy and weakness of skeletal muscle. It can be confirmed by clinical history, acid α-glucosidase (GAA) testing and GAA mutations. Early targeting treatment and nursing can improve the prognosis and quality of life of patients with GSDⅡ. Progress in genetic diagnosis and management of GSDⅡ will be reviewed in this paper. doi: 10.3969/j.issn.1672-6731.2014.05.005
    • File Description:
      electronic resource
    • ISSN:
      1672-6731
    • Relation:
      http://www.cjcnn.org/index.php/cjcnn/article/view/949; https://doaj.org/toc/1672-6731
    • الرقم المعرف:
      edsdoj.77edd1cc934432b9fd37264942ef586