Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

Background: Hypophosphatasia (HPP) is an inborn disease caused by pathogenic variants in ALPL. Low levels of alkaline phosphatase (ALP) are a biochemical hallmark of the disease. Scarce knowledge about the prevalence of HPP in Scandinavia exists, and the variable clinical presentations make diagnost...

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Bibliographic Details
Main Authors: Nicola Hepp, Anja Lisbeth Frederiksen, Morten Duno, Jakob Præst Holm, Niklas Rye Jørgensen, Jens-Erik Beck Jensen
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Bone Reports
Subjects:
Alkaline phosphatase
ALPL
Hypophosphatasia
Osteoporosis
Bisphosphonates
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187221003570

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http://www.sciencedirect.com/science/article/pii/S2352187221003570

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