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

Abstract 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 e...

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Главные авторы:	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, P. Aguado
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2020-02-01
Серии:	Orphanet Journal of Rare Diseases
Предметы:	Metabolic bone diseases Hypophosphatasia Hypophosphatasaemia Alkaline phosphatase ALPL
Online-ссылка:	http://link.springer.com/article/10.1186/s13023-020-1315-y
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