文章基本信息

标题：Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
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作者：Rie Chida-Naomiya ; Masaru Shimura ; Ryuhei Nagao 等
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