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Journal Abstract Search

185 related items for PubMed ID: 16849419

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  • 4. SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.
    Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Dehghan E, Soltani A, Amiri P, Larijani B.
    J Clin Res Pediatr Endocrinol; 2012 Jun; 4(2):89-93. PubMed ID: 22672866
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  • 5. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
    Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H.
    Am J Hum Genet; 2006 Feb; 78(2):179-92. PubMed ID: 16358214
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  • 7. [Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].
    Segawa H, Shiozaki Y, Minoshima S, Miyamoto K.
    Clin Calcium; 2013 Oct; 23(10):1445-50. PubMed ID: 24076642
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  • 8. 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; 50(5):1100-6. PubMed ID: 22387237
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  • 10. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
    Abe Y, Nagasaki K, Watanabe T, Abe T, Fukami M.
    Horm Res Paediatr; 2014 May; 82(1):65-71. PubMed ID: 24924704
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  • 13. 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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  • 14. 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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  • 15. Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
    Dhir G, Li D, Hakonarson H, Levine MA.
    Bone; 2017 Apr 01; 97():15-19. PubMed ID: 27939817
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  • 17. 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 01; 25(10):2366-75. PubMed ID: 24700880
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  • 18. 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 01; 37(8):1580-1591. PubMed ID: 35689455
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  • 19. 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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  • 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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