Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia

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 an...

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Detalles Bibliográficos
Autores principales: Chida-Naomiya, Rie, Shimura, Masaru, Nagao, Ryuhei, Kumada, Atsushi, Kawashima, Hisashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284058/
https://www.ncbi.nlm.nih.gov/pubmed/32547926
http://dx.doi.org/10.1016/j.ymgmr.2020.100612
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author Chida-Naomiya, Rie
Shimura, Masaru
Nagao, Ryuhei
Kumada, Atsushi
Kawashima, Hisashi
author_facet Chida-Naomiya, Rie
Shimura, Masaru
Nagao, Ryuhei
Kumada, Atsushi
Kawashima, Hisashi
author_sort Chida-Naomiya, Rie
collection PubMed
description 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.
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spelling pubmed-72840582020-06-15 Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia Chida-Naomiya, Rie Shimura, Masaru Nagao, Ryuhei Kumada, Atsushi Kawashima, Hisashi Mol Genet Metab Rep Short Communication 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. Elsevier 2020-06-06 /pmc/articles/PMC7284058/ /pubmed/32547926 http://dx.doi.org/10.1016/j.ymgmr.2020.100612 Text en © 2020 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Short Communication
Chida-Naomiya, Rie
Shimura, Masaru
Nagao, Ryuhei
Kumada, Atsushi
Kawashima, Hisashi
Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
title Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
title_full Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
title_fullStr Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
title_full_unstemmed Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
title_short Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
title_sort hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284058/
https://www.ncbi.nlm.nih.gov/pubmed/32547926
http://dx.doi.org/10.1016/j.ymgmr.2020.100612
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