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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2020

Alonso Nerea, Larraz-Prieto Beatriz, Berg Kathryn, Lambert Zoe, Redmond Paul, Harris Sarah E, Deary Ian J, Pugh Carys, Prendergast James, Ralston Stuart H

Abstract excerpt

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 HPP are poorly defined. The aim of this study was to evaluate the prevalence and clinical significance of low serum...

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Identifiers

PMID: 31793067
DOI: 10.1002/jbmr.3928
PMCID: PMC9328664

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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