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Article

When to suspect infantile hypercalcemia-1?

Journal of endocrinological investigation - 1 Sept 2024

Brancatella A, Cappellani D, Pierotti L, Dinoi E, Sardella C, Borsari S, Piaggi P, Baldinotti F, Caligo M A, Marcocci C, Cetani F

Abstract excerpt

PURPOSE: The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D3/24,25(OH)2D3 ratio at mass spectroscopy (MS). When the ratio is > 80, the gold standard for the diagnosis is genetic analysis. Given its limited availability, MS may not represent a screening test and most cases of HCINF1 remain undiagnosed. Aim of the study is to identify cut-offs of serum calcium and PTH useful...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38329607
DOI: 10.1007/s40618-024-02312-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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