Associated Papers
Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants.
McBride L et al.
Kidney International Reports, 2019
Rare cause of maternal and neonatal hypercalcaemia.
McBride L et al.
Journal of Paediatrics and Child Health, 2019
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.
Sun Y et al.
Fetal and Pediatric Pathology, 2019
A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
Ferraro PM et al.
Urolithiasis, 2017
[Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review].
Seidowsky A et al.
Nephrologie & Therapeutique, 2017
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.
Gigante M et al.
Nephron, 2016
CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
Molin A et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
Figueres ML et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015
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