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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Autori principali:	Tobias Schmidt, Constantin Schmidt, Michael Amling, Jan Kramer, Florian Barvencik
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2021-10-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	Hypophosphatasia Alkaline phosphatase Pyridoxal-5-phosphate Rare bone disease
Accesso online:	https://doi.org/10.1186/s13023-021-02084-w
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