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Article

Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease.

European journal of medical genetics - 1 Nov 2023

van Velsen Evert F S, Zervou Zografia, Zillikens M Carola

Abstract excerpt

BACKGROUND: Hypophosphatasia (HPP) is a rare inherited disorder caused by pathogenic loss-of-function variants in the ALPL gene, encoding the tissue-nonspecific isoenzym of alkaline phosphatase (ALP; TNSALP). Low serum ALP is the biochemical hallmark of HPP, but it is unknown whether ALP levels can increase due to concurring liver disease, which may lead to a missed diagnose of HPP. We present a patient with...

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Identifiers

PMID: 37839783
DOI: 10.1016/j.ejmg.2023.104866

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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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