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A Rare Case of Perinatal Hypophosphatasia Treated With Asfotase Alfa
Background: Perinatal Hypophosphatasia (HPP) is a rare and lethal disorder associated with a 50–100% mortality rate, usually due to respiratory complications. HPP occurs due to a loss-of-function mutation in the ALPL gene, responsible for the function of tissue-nonspecific alkaline phosphatase (TNSA...
Gardado en:
| Publicado en: | J Endocr Soc |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Oxford University Press
2021
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8089762/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.359 |
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