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Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia

BACKGROUND: Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline phosphatase (ALP) threshold levels to identify adults with variants in ALPL am...

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Detalles Bibliográficos
Autores principales:	Tornero, C., Navarro-Compán, V., Buño, A., Heath, K. E., Díaz-Almirón, M., Balsa, A., Tenorio, J. A., Quer, J., Aguado, P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896389/ https://www.ncbi.nlm.nih.gov/pubmed/35241128 http://dx.doi.org/10.1186/s13023-022-02253-5

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