Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia? | Orphanet Journal of Rare Diseases | Full Text

Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia? | Orphanet Journal of Rare Diseases | Full Text

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

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 betwe...

Authors:C. Tornero, V. Navarro-Compán, J. A. Tenorio, S. García-Carazo, A. Buño, I. Monjo, C. Plasencia-Rodriguez, J. M. Iturzaeta, P. Lapunzina, K. E. Heath, A. Balsa and P. Aguado

Citation:Orphanet Journal of Rare Diseases 2020 15:51

Content type:Research

Published on: 17 February 2020

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