Associated Papers
Challenges and Pitfalls in Diagnosing and Managing Severe Gestational Hypercalcaemia.
Dewdney C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2026
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis.
Paneque T et al.
Urolithiasis, 2025
Hypercalcemia due to CYP24A1 variants in five unrelated patients: diagnostic and clinical considerations.
Sarvaideo JL et al.
Jbmr Plus, 2025
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 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
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
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A et al.
Frontiers in Endocrinology, 2024
CYP24A1 gene defect manifesting with gestational hypercalcemia
Györkös A et al.
Orvosi Hetilap, 2022
Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.
Pilz S et al.
Nutrients, 2022
Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.
Brunerova L et al.
Frontiers in Medicine, 2022
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
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
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.
Griffin TP et al.
Endocrine Connections, 2020
Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1.
Arnold N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2019
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
Three Sisters With Heterozygous Gene Variants of CYP24A1: Maternal Hypercalcemia, New-Onset Hypertension, and Neonatal Hypoglycemia.
Hedberg F et al.
Journal of the Endocrine Society, 2019
Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.
Jiráčková J et al.
Kidney & Blood Pressure Research, 2019
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
Pronicka E et al.
Journal of Applied Genetics, 2017
CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.
Hawkes CP et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
[Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review].
Seidowsky A et al.
Nephrologie & Therapeutique, 2017
A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up.
Ertl DA et al.
Hormone Research in Paediatrics, 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
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