Loss‐of‐Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

Hypophosphatasia (HPP) is a rare inherited disorder characterized by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL. Severe HPP presents in childhood but milder forms can present in adulthood. The prevalence and clinical features of adult H...

Descripción completa

Detalles Bibliográficos
Autores principales: Alonso, Nerea, Larraz‐Prieto, Beatriz, Berg, Kathryn, Lambert, Zoe, Redmond, Paul, Harris, Sarah E, Deary, Ian J, Pugh, Carys, Prendergast, James, Ralston, Stuart H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9328664/
https://www.ncbi.nlm.nih.gov/pubmed/31793067
http://dx.doi.org/10.1002/jbmr.3928

Ejemplares similares

Ejemplares similares