Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

Introduction Hypophosphatasia (HPP) is a rare genetic disease caused by loss-of-function mutations in the ALPL gene encoding the tissue non-specific alkaline phosphatase (ALP). Mild HPP is usually misdiagnosed in adult age. While an elevated serum ALP value draws more attention than a low value, low...

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Bibliographic Details
Main Authors: Yves Maugars, Alice Tison, Beatrice Bouvard, Pascal Guggenbuhl, Guillaume Larid, Justine Vix, Pauline Preuss, François Robin, Clémentine Delaveau, Faustine Krajewski, Delphine Chu Miow Lin, Francoise Debiais
Format: Article
Language:English
Published: BMJ Publishing Group 2024-05-01
Series:RMD Open
Online Access:https://rmdopen.bmj.com/content/10/2/e004316.full

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