Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

scientific article

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1210/JC.2011-1972
P932PMC publication ID3275367
P698PubMed publication ID22112808
P5875ResearchGate publication ID51827902

P50authorSteven A. AbramsQ45310795
Joel HirschhornQ56277942
P2093author name stringAndrew Dauber
David E C Cole
Thutrang T Nguyen
Etienne Sochett
Thomas O Carpenter
Ronald Horst
P2860cites workCommon genetic determinants of vitamin D insufficiency: a genome-wide association studyQ24602058
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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemiaQ28295479
Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host diseaseQ33583414
Targeted inactivation of vitamin D hydroxylases in miceQ33697491
Using stable isotopes to assess mineral absorption and utilization by childrenQ33786005
Calcium absorption in infants and small children: methods of determination and recent findings.Q35670941
Eight cytochrome P450s catalyze vitamin D metabolismQ35880728
Vitamin D: extraskeletal healthQ37761547
Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D?Q41027076
Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment.Q43098170
Altered pharmacokinetics of 1alpha,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouseQ45119356
Mutations in CYP24A1 and idiopathic infantile hypercalcemiaQ45345347
Oral calcium-loading test in infancy, with particular reference to idiopathic hypercalcaemiaQ49172149
Mild Infantile Hypercalcemia: Diagnostic Tests and OutcomesQ57796377
Pubertal Girls Only Partially Adapt to Low Dietary Calcium IntakesQ61479177
Increased serum level of 1,25-dihydroxyvitamin D3 after parathyroid hormone in the normocalcemic phase of idiopathic hypercalcemiaQ68371960
Nephrocalcinosis, hypercalciuria and elevated serum levels of 1,25-dihydroxyvitamin D in children. Possible link to vitamin D toxicityQ68886851
Quantitation of vitamin D and its metabolites and their plasma concentrations in five species of animalsQ72913798
Familial occurrence of idiopathic infantile hypercalcemiaQ73030892
Persistent hypercalciuria and elevated 25-hydroxyvitamin D3 in children with infantile hypercalcaemiaQ73077269
Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin DQ73941869
Metabolic studies on two infants with idiopathic hypercalcaemiaQ74032754
Etiology of the severe form of idiopathic hypercalcemia of infancy; a defect in vitamin D metabolismQ78436037
Calcium balance in 1-4-y-old childrenQ79896833
Long-term follow-up of patients with idiopathic infantile hypercalcaemiaQ80167735
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectvitaminQ34956
vitamin DQ175621
patientQ181600
clinical chemistryQ849994
P304page(s)E268-74
P577publication date2012-02-01
P1433published inThe Journal of Clinical Endocrinology and MetabolismQ3186902
P1476titleGenetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia
P478volume97

Reverse relations

cites work (P2860)
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Q35762545Altered Calcium and Vitamin D Homeostasis in First-Time Calcium Kidney Stone-Formers
Q35813253CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.
Q51092138CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.
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Q89337281Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect
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