Associated Papers
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Janiec A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.
Hanna C et al.
Kidney International Reports, 2021
Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
Brancatella A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.
Jiráčková J et al.
Kidney & Blood Pressure Research, 2019
A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
Ferraro PM et al.
Urolithiasis, 2017
Erratum to: A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
Ferraro PM et al.
Urolithiasis, 2017
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