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  • 标题:Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
  • 本地全文:下载
  • 作者:Rie Chida-Naomiya ; Masaru Shimura ; Ryuhei Nagao
  • 期刊名称:Molecular Genetics and Metabolism Reports
  • 印刷版ISSN:2214-4269
  • 出版年度:2020
  • 卷号:24
  • 页码:1-3
  • DOI:10.1016/j.ymgmr.2020.100612
  • 出版社:Elsevier B.V.
  • 摘要:Hearing impairment is a neurological symptom of hypophosphatasia (HPP), which leads to a reduced quality of life. However, the pathomechanism of hearing impairment and the effects of asfotase alfa enzyme replacement therapy on hearing function in HPP have not been clarified. Here we report a case and present clinical data of a patient with perinatal HPP whose hearing impairment improved after asfotase alfa treatment.
  • 关键词:Hypophosphatasia ; Perinatal hypophosphatasia ; Hearing impairment ; Deafness ; Asftase alfa
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