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Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

BACKGROUND: Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low levels of serum alkaline phosphatase (ALP). Scarce evidence exists about features that should signal the potential association between hypophosphatasaemia and HPP in adults. The aim of this study is to estimate...

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Detalles Bibliográficos
Autores principales:	Tornero, C., Navarro-Compán, V., Tenorio, J. A., García-Carazo, S., Buño, A., Monjo, I., Plasencia-Rodriguez, C., Iturzaeta, J. M., Lapunzina, P., Heath, K. E., Balsa, A., Aguado, P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026995/ https://www.ncbi.nlm.nih.gov/pubmed/32066479 http://dx.doi.org/10.1186/s13023-020-1315-y

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