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Journal Abstract Search

350 related items for PubMed ID: 34721296

  • 21. Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1.
    Bizerea-Moga TO, Chisavu F, Ilies C, Olah O, Marginean O, Gafencu M, Doros G, Stroescu R.
    Children (Basel); 2023 Oct 17; 10(10):. PubMed ID: 37892364
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  • 23. Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report.
    Kang SJ, Lee R, Kim HS.
    Ann Pediatr Endocrinol Metab; 2019 Mar 17; 24(1):64-67. PubMed ID: 30943683
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  • 24. CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.
    Hawkes CP, Li D, Hakonarson H, Meyers KE, Thummel KE, Levine MA.
    J Clin Endocrinol Metab; 2017 May 01; 102(5):1440-1446. PubMed ID: 28324001
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  • 28. Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
    Brancatella A, Cappellani D, Kaufmann M, Borsari S, Piaggi P, Baldinotti F, Caligo MA, Jones G, Marcocci C, Cetani F.
    J Clin Endocrinol Metab; 2021 Mar 08; 106(3):708-717. PubMed ID: 33249478
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  • 29. Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling.
    Kaufmann M, Schlingmann KP, Berezin L, Molin A, Sheftel J, Vig M, Gallagher JC, Nagata A, Masoud SS, Sakamoto R, Nagasawa K, Uesugi M, Kottler ML, Konrad M, Jones G.
    J Bone Miner Res; 2021 Jul 08; 36(7):1340-1350. PubMed ID: 33856702
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  • 30. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
    Abe Y, Nagasaki K, Watanabe T, Abe T, Fukami M.
    Horm Res Paediatr; 2014 Jul 08; 82(1):65-71. PubMed ID: 24924704
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  • 31. Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.
    Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ.
    J Urol; 2013 Aug 08; 190(2):552-7. PubMed ID: 23470222
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  • 32. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
    Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH.
    J Clin Endocrinol Metab; 2014 Nov 08; 99(11):E2451-6. PubMed ID: 25050900
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  • 33. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
    Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O.
    Exp Clin Endocrinol Diabetes; 2009 Feb 08; 117(2):49-56. PubMed ID: 18523928
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  • 34. Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.
    Jiráčková J, Hyšpler R, Alkanderi S, Pavlíková L, Palicka V, Sayer JA.
    Kidney Blood Press Res; 2019 Feb 08; 44(4):870-877. PubMed ID: 31288237
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  • 35. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
    Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C.
    J Am Soc Nephrol; 2014 Oct 08; 25(10):2366-75. PubMed ID: 24700880
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  • 36. [A young girl with recurrent calculosis and hypercalcemia].
    Di Maio F, Vittori M, Bassi P, Fulignati P, D'Alonzo S, Ferraro PM.
    G Ital Nefrol; 2018 May 08; 35(3):. PubMed ID: 29786188
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  • 37. Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.
    Colussi G, Ganon L, Penco S, De Ferrari ME, Ravera F, Querques M, Primignani P, Holtzman EJ, Dinour D.
    Nephrol Dial Transplant; 2014 Mar 08; 29(3):636-43. PubMed ID: 24235083
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  • 38. Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
    Brazier F, Courbebaisse M, David A, Bergerat D, Leroy C, Lindner M, Maruani G, Saint Jacques C, Letavernier E, Hureaux M, Vargas-Poussou R, Prié D.
    Sci Rep; 2023 Jan 03; 13(1):85. PubMed ID: 36596813
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  • 39. Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.
    Tebben PJ, Milliner DS, Horst RL, Harris PC, Singh RJ, Wu Y, Foreman JW, Chelminski PR, Kumar R.
    J Clin Endocrinol Metab; 2012 Mar 03; 97(3):E423-7. PubMed ID: 22337913
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  • 40. Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients.
    Kaufmann M, Morse N, Molloy BJ, Cooper DP, Schlingmann KP, Molin A, Kottler ML, Gallagher JC, Armas L, Jones G.
    J Bone Miner Res; 2017 Jul 03; 32(7):1589-1596. PubMed ID: 28304097
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