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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
Главные авторы: Matsushita, Masaki, Mishima, Kenichi, Nagata, Tadashi, Kamiya, Yasunari, Imagama, Shiro, Kitoh, Hiroshi
Формат: Artigo
Язык:Inglês
Опубликовано: The Japanese Society for Pediatric Endocrinology 2021
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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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