| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | Daniele Cappellani | Q59689220 |
| Angelo Minucci | Q62016542 | ||
| Claudio Marcocci | Q92024418 | ||
| P2093 | author name string | Martin Kaufmann | |
| Glenville Jones | |||
| Filomena Cetani | |||
| Ettore Capoluongo | |||
| Domenico Canale | |||
| Elisa De Paolis | |||
| Alessandro Brancatella | |||
| Edda Vignali | |||
| P2860 | cites work | Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA | Q24308870 |
| FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis | Q24319751 | ||
| Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia | Q24634055 | ||
| Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis | Q26797665 | ||
| Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD | Q33837169 | ||
| Calcitroic acid, end product of renal metabolism of 1,25-dihydroxyvitamin D3 through C-24 oxidation pathway | Q34661223 | ||
| Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy | Q35869662 | ||
| Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. | Q35916467 | ||
| A High-Calcium and Phosphate Rescue Diet and VDR-Expressing Transgenes Normalize Serum Vitamin D Metabolite Profiles and Renal Cyp27b1 and Cyp24a1 Expression in VDR Null Mice | Q36305152 | ||
| Incidence and prevalence of primary hyperparathyroidism in a racially mixed population | Q36663050 | ||
| Cytochrome P450-mediated metabolism of vitamin D. | Q37590269 | ||
| A lifetime of hypercalcemia and hypercalciuria, finally explained | Q37616864 | ||
| 25-Hydroxyvitamin D-24-hydroxylase (CYP24A1): its important role in the degradation of vitamin D. | Q37958494 | ||
| Clinical practice. Primary hyperparathyroidism | Q37970392 | ||
| Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. | Q38539053 | ||
| CYP24A1 LOSS OF FUNCTION: CLINICAL PHENOTYPE OF MONOALLELIC AND BIALLELIC MUTATIONS. | Q39090942 | ||
| Vitamin D: the vitamin and the hormone. | Q39902772 | ||
| Current understanding of the molecular actions of vitamin D. | Q40838113 | ||
| Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment | Q41640652 | ||
| Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations. | Q41759889 | ||
| Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole. | Q42392666 | ||
| Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. | Q43098170 | ||
| CYP24A1-deficient mice as a tool to uncover a biological activity for vitamin D metabolites hydroxylated at position 24. | Q43166997 | ||
| Isolation and characterization of a cytochrome P-450 from rat kidney mitochondria that catalyzes the 24-hydroxylation of 25-hydroxyvitamin D3. | Q44511335 | ||
| Mutations in CYP24A1 and idiopathic infantile hypercalcemia | Q45345347 | ||
| Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake | Q45810023 | ||
| Structural characterization of the gene encoding rat 25-hydroxyvitamin D3 24-hydroxylase | Q48137352 | ||
| A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass. | Q48349461 | ||
| Genetic Diseases of Vitamin D Metabolizing Enzymes | Q50101271 | ||
| Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients. | Q50793223 | ||
| Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations. | Q50906609 | ||
| CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations. | Q51092138 | ||
| Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. | Q54269517 | ||
| CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. | Q54587266 | ||
| Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure. | Q54597198 | ||
| Idiopathic hypercalcaemia in infants | Q73208515 | ||
| CYP24A1 mutations in idiopathic infantile hypercalcemia | Q82310157 | ||
| A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH) | Q88158736 | ||
| Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect | Q89337281 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | homozygosity | Q114049690 |
| P304 | page(s) | 4982621 | |
| P577 | publication date | 2019-04-08 | |
| P1433 | published in | Case reports in endocrinology | Q27724372 |
| P1476 | title | Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature | |
| P478 | volume | 2019 |
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