Associated Papers
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.
Jones G et al.
Journal of Endocrinological Investigation, 2024
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D-mediated Hypercalcemia Disorders.
Azer SM et al.
Journal of the Endocrine Society, 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
Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1.
Arnold N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2019
A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency.
Woods GN et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
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