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

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 bone an...

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Detalles Bibliográficos
Autores principales: Schmidt, Tobias, Schmidt, Constantin, Amling, Michael, Kramer, Jan, Barvencik, Florian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555173/
https://www.ncbi.nlm.nih.gov/pubmed/34711245
http://dx.doi.org/10.1186/s13023-021-02084-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555173/
https://www.ncbi.nlm.nih.gov/pubmed/34711245
http://dx.doi.org/10.1186/s13023-021-02084-w

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