Dataset Information
Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia.
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ABSTRACT:
SUBMITTER: Chida-Naomiya R
PROVIDER: S-EPMC7284058 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Publications
Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia.
Molecular genetics and metabolism reports 20200606
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. ...[more]