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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Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: Srivastava, Priya S, Walch, Abby, Vyas, Arpita Kalla, Capodanno, Gina, Lee, Janet Yi Man
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2021
Fag:
Bone and Mineral Metabolism
Online adgang: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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