The Prevalence and Burden of Hypophosphatasia in an Ambulatory Endocrinology Practice

Introduction: Hypophosphatasia (HPP) is an autosomal disease resulting from loss-of-function mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The presentation and severity of the disease is highly variable ranging from perinatal-onset HPP with mortality rates as...

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Bibliographic Details
Published in:J Endocr Soc
Main Authors: Quinn, Hugh B, Busch, Robert S, Kane, Michael P
Format: Artigo
Language:Inglês
Published: Oxford University Press 2021
Subjects:
Bone and Mineral Metabolism
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090367/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.546
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