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Article

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.

Frontiers in endocrinology - 1 Jan 2022

Santurtún Maite, Mediavilla-Martinez Eva, Vega Ana I, Gallego Natalia, Heath Karen E, Tenorio Jair A, Lapunzina Pablo, Riancho-Zarrabeitia Leyre, Riancho José A

Abstract excerpt

Background: Low serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown. We aimed to determine health-related quality of life in adults with low alkaline phosphatase and explore the differences between patients with and without ALPL...

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Identifiers

PMID: 36072928
DOI: 10.3389/fendo.2022.965476
PMCID: PMC9442670

Provenance

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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