Article

Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider – Retrospective Analyses over Fifteen Years

2024-10-04

Abstract excerpt

<h4>Introduction: </h4> Persistent hypophosphatasia (pHPE) can be an expression of hypophosphatasia (HPP), a rare disorder of bone metabolism resulting from ALPL gene pathogenic variants. The aim of this study was to identify the role of auxiliary general biomarkers to verify low ALP serum activity as an alert parameter for an ALPL gene pathogenic variants. <h4>Material:</h4> A retrospective analysis of adult pati...

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Literature Corpus work: 29de8a8a-4d2f-5b5b-88c5-5f2f837df583
DOI: 10.20944/preprints202410.0318.v1

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