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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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Principais autores: Tobias Schmidt, Constantin Schmidt, Michael Amling, Jan Kramer, Florian Barvencik
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2021-10-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Hypophosphatasia
Alkaline phosphatase
Pyridoxal-5-phosphate
Rare bone disease
Online adgang:https://doi.org/10.1186/s13023-021-02084-w
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