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Journal Abstract Search

190 related items for PubMed ID: 29809158

  • 1. SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria.
    Hasani-Ranjbar S, Ejtahed HS, Amoli MM, Bitarafan F, Qorbani M, Soltani A, Yarjoo B.
    J Clin Res Pediatr Endocrinol; 2018 Nov 29; 10(4):343-349. PubMed ID: 29809158
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  • 3. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.
    Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C.
    Bone; 2012 May 29; 50(5):1100-6. PubMed ID: 22387237
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  • 6. Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.
    Ichikawa S, Tuchman S, Padgett LR, Gray AK, Baluarte HJ, Econs MJ.
    Bone; 2014 Feb 29; 59():53-6. PubMed ID: 24176905
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  • 9. 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 29; 117(2):49-56. PubMed ID: 18523928
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  • 10. Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
    Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA.
    J Clin Endocrinol Metab; 2020 Jul 01; 105(7):2392-400. PubMed ID: 32311027
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  • 11. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
    Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM.
    Am J Hum Genet; 2006 Feb 01; 78(2):193-201. PubMed ID: 16358215
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  • 12. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
    Abe Y, Nagasaki K, Watanabe T, Abe T, Fukami M.
    Horm Res Paediatr; 2014 Feb 01; 82(1):65-71. PubMed ID: 24924704
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  • 13. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
    Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E.
    Am J Med Genet A; 2011 Mar 01; 155A(3):626-33. PubMed ID: 21344632
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  • 14. Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.
    Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F.
    Orphanet J Rare Dis; 2010 Jan 14; 5():1. PubMed ID: 20074341
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  • 15. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
    Bergwitz C, Miyamoto KI.
    Pflugers Arch; 2019 Jan 14; 471(1):149-163. PubMed ID: 30109410
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  • 16. Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
    Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R.
    J Bone Miner Res; 2022 Aug 14; 37(8):1580-1591. PubMed ID: 35689455
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  • 17. Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.
    Ichikawa S, Sorenson AH, Imel EA, Friedman NE, Gertner JM, Econs MJ.
    J Clin Endocrinol Metab; 2006 Oct 14; 91(10):4022-7. PubMed ID: 16849419
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  • 18. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.
    Schinke T, Oheim R.
    Kidney Int; 2024 May 14; 105(5):927-929. PubMed ID: 38642991
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  • 19. Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
    Schönauer R, Petzold F, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J.
    Urolithiasis; 2019 Dec 14; 47(6):511-519. PubMed ID: 30798342
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  • 20. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
    Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C.
    Kidney Int; 2024 May 14; 105(5):1058-1076. PubMed ID: 38364990
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