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PUBMED FOR HANDHELDS

Journal Abstract Search

280 related items for PubMed ID: 28304097

  • 21.
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  • 22. Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
    Wang Q, Chen JJ, Wei LY, Ding Y, Liu M, Li WJ, Su C, Gong CX.
    Orphanet J Rare Dis; 2024 Mar 19; 19(1):126. PubMed ID: 38504242
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  • 24. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
    Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M.
    J Am Soc Nephrol; 2016 Feb 19; 27(2):604-14. PubMed ID: 26047794
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  • 27. Comparison of the effect of daily versus bolus dose maternal vitamin D3 supplementation on the 24,25-dihydroxyvitamin D3 to 25-hydroxyvitamin D3 ratio.
    Ketha H, Thacher TD, Oberhelman SS, Fischer PR, Singh RJ, Kumar R.
    Bone; 2018 May 19; 110():321-325. PubMed ID: 29486367
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  • 32. Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report.
    Mirea AM, Pop RM, Căinap SS, Trifa AP.
    Eur J Med Genet; 2020 Dec 19; 63(12):104100. PubMed ID: 33186763
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  • 37. 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, Kaufmann M, St-Arnaud R.
    J Endocrinol Invest; 2024 Nov 19; 47(11):2663-2670. PubMed ID: 38780860
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  • 38. Serum 24,25-dihydroxyvitamin D3 response to native vitamin D2 and D3 Supplementation in patients with chronic kidney disease on hemodialysis.
    Graeff-Armas LA, Kaufmann M, Lyden E, Jones G.
    Clin Nutr; 2018 Jun 19; 37(3):1041-1045. PubMed ID: 28506446
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  • 39. Rifampin monotherapy for children with idiopathic infantile hypercalcemia.
    Lenherr-Taube N, Furman M, Assor E, Thummel K, Levine MA, Sochett E.
    J Steroid Biochem Mol Biol; 2023 Jul 19; 231():106301. PubMed ID: 36990163
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  • 40. Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.
    Shah AD, Hsiao EC, O'Donnell B, Salmeen K, Nussbaum R, Krebs M, Baumgartner-Parzer S, Kaufmann M, Jones G, Bikle DD, Wang Y, Mathew AS, Shoback D, Block-Kurbisch I.
    J Clin Endocrinol Metab; 2015 Aug 19; 100(8):2832-6. PubMed ID: 26097993
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