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Article

Identifying adult hypophosphatasia in the rheumatology unit.

Orphanet journal of rare diseases - 14 Dec 2022

Feurstein Julia, Behanova Martina, Haschka Judith, Roetzer Katharina, Uyanik Gökhan, Hadzimuratovic Benjamin, Witsch-Baumgartner Martina, Schett Georg, Zwerina Jochen, Kocijan Roland

Abstract excerpt

BACKGROUND: The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis. The aim of the study was to assess the prevalence of ALPL mutations in adult patients treated in rheumatological outpatient facilities with evident musculoskeletal symptoms typical for HPP. METHODS: Over a period of 10 years 9,522...

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Identifiers

PMID: 36514157
DOI: 10.1186/s13023-022-02572-7
PMCID: PMC9749273

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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