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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...
Autores principales: | Matsushita, Masaki, Mishima, Kenichi, Nagata, Tadashi, Kamiya, Yasunari, Imagama, Shiro, Kitoh, Hiroshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2021
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Materias: | |
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 |
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