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Article

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jan 2015

Figueres Marie-Lucile, Linglart Agnès, Bienaime Frank, Allain-Launay Emma, Roussey-Kessler Gwenaelle, Ryckewaert Amélie, Kottler Marie-Laure, Hourmant Maryvonne

Abstract excerpt

Loss-of-function mutations of CYP24A1, the enzyme that converts the major circulating and active forms of vitamin D to inactive metabolites, recently have been implicated in idiopathic infantile hypercalcemia. Patients with biallelic mutations in CYP24A1 present with severe hypercalcemia and nephrocalcinosis in infancy or hypercalciuria, kidney stones, and nephrocalcinosis in adulthood. We describe a cohort of 7...

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Identifiers

PMID: 25446019
DOI: 10.1053/j.ajkd.2014.06.037

Genes

PTH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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