Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

Abstract Background Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to persistent low ALP activity resulting in the rare disease Hypophosphatasia (HPP) that is characterized by disturbed...

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Bibliographic Details
Main Authors: Tobias Schmidt, Constantin Schmidt, Michael Amling, Jan Kramer, Florian Barvencik
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hypophosphatasia
Alkaline phosphatase
Pyridoxal-5-phosphate
Rare bone disease
Online Access:https://doi.org/10.1186/s13023-021-02084-w

Internet

https://doi.org/10.1186/s13023-021-02084-w

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