MON-341 New Diagnosis of Hypophosphatasia in a 79-Year-Old Woman with Low Bone Density

Introduction: Hypophosphatasia is a rare metabolic bone disease caused by one of several mutations in the ALPL gene which encodes tissue nonspecific alkaline phosphatase (ALP). It is usually diagnosed in childhood and can have a heterogenous clinical presentation depending on the extent of enzyme de...

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Bibliographic Details
Published in:J Endocr Soc
Main Authors: Manavalan, Anjali, Mathias, Priyanka, Khoshbin, Katayoun, Tabatabaie, Vafa
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
Subjects:
Bone and Mineral Metabolism
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207544/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1252
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