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  • 标题:Two cases of Fabry disease identified in brothers
  • 本地全文:下载
  • 作者:Cho, Ji Eun ; Hong, Yong Hee ; Lee, Yang Gyun
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2010
  • 卷号:53
  • 期号:2
  • 页码:235-238
  • DOI:10.3345/kjp.2010.53.2.235
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.

  • 关键词:fabry disease; Mutation; Enzyme replacement therapy
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