Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report

Hypophosphatasia (HPP) is a rare skeletal dysplasia characterized by impaired bone mineralization, caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Enzyme replacement therapy (ERT) by administration of asfotase alfa was reported to improve the surviv...

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Detalles Bibliográficos
Autores principales: Matsushita, Masaki, Mishima, Kenichi, Nagata, Tadashi, Kamiya, Yasunari, Imagama, Shiro, Kitoh, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783131/
https://www.ncbi.nlm.nih.gov/pubmed/33446953
http://dx.doi.org/10.1297/cpe.30.53

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783131/
https://www.ncbi.nlm.nih.gov/pubmed/33446953
http://dx.doi.org/10.1297/cpe.30.53

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