Associated Papers
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma-a case report and review.
Leszczyńska D et al.
Frontiers in Endocrinology, 2024
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 2017
[Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review].
Seidowsky A et al.
Nephrologie & Therapeutique, 2017
Hyperparathyroidism complicating CYP 24A1 mutations.
Loyer C et al.
Annales D'endocrinologie, 2016
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
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Jobst-Schwan T et al.
Kidney & Blood Pressure Research, 2015
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Nesterova G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013