Condition: Hypercalcemia, Infantile, 1


rs114368325 in CYP24A1 gene and Hypercalcemia, Infantile, 1 PMID 25194629 2015 Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake.

PMID 26117226 2015 Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.

PMID 26097993 2015 Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.

PMID 23001465 2013 Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.

PMID 23485543 2013 Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

PMID 25446019 2015 Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

PMID 21675912 2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

PMID 24518185 2014 "A Case of ""Late-Onset"" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene."

PMID 26214117 2015 CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

PMID 27394135 2016 Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.

PMID 23293122 2013 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

PMID 28109821 2017 Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D.

PMID 23470222 2013 Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.

PMID 24875559 2014 CYP24A1 mutation leading to nephrocalcinosis.

PMID 26787776 2016 Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.

PMID 22112808 2012 Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

PMID 24423361 2014 A lifetime of hypercalcemia and hypercalciuria, finally explained.

PMID 26304832 2015 Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.

PMID 22047572 2011 CYP24A1 mutations in idiopathic infantile hypercalcemia.