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...

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Detalles Bibliográficos
Autores principales: Srivastava, Priya S, Walch, Abby, Vyas, Arpita Kalla, Capodanno, Gina, Lee, Janet Yi Man
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Bone and Mineral Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089762/
http://dx.doi.org/10.1210/jendso/bvab048.359

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