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Article

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.

Calcified tissue international - 1 Mar 2021

Jandl Nico Maximilian, Schmidt Tobias, Rolvien Tim, Stürznickel Julian, Chrysostomou Konstantin, von Vopelius Emil, Volk Alexander E, Schinke Thorsten, Kubisch Christian, Amling Michael, Barvencik Florian

Abstract excerpt

Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). As the onset and severity of HPP are heterogenous, it can be challenging to determine the pathogenicity of detected rare ALPL variants in symptomatic patients. We aimed to characterize patients with rare ALPL variants to propose which patients can be diagnosed with adult...

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Identifiers

PMID: 33191482
DOI: 10.1007/s00223-020-00771-7
PMCID: PMC7881968

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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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