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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...
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| Опубликовано в: : | Clin Pediatr Endocrinol |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
The Japanese Society for Pediatric Endocrinology
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7783131/ https://ncbi.nlm.nih.gov/pubmed/33446953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.30.53 |
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