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243 related items for PubMed ID: 24076642

  • 1. [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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
    Chi Y, Zhao Z, He X, Sun Y, Jiang Y, Li M, Wang O, Xing X, Sun AY, Zhou X, Meng X, Xia W.
    Bone; 2014 Feb; 59():114-21. PubMed ID: 24246249
    [Abstract] [Full Text] [Related]

  • 4. 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; 117(2):49-56. PubMed ID: 18523928
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Hereditary hypophosphatemic rickets with hypercalciuria: case report.
    Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R.
    Nefrologia; 2012 Jul 17; 32(4):529-34. PubMed ID: 22806288
    [Abstract] [Full Text] [Related]

  • 7. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
    Bergwitz C, Miyamoto KI.
    Pflugers Arch; 2019 Jan 17; 471(1):149-163. PubMed ID: 30109410
    [Abstract] [Full Text] [Related]

  • 8. Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice.
    Myakala K, Motta S, Murer H, Wagner CA, Koesters R, Biber J, Hernando N.
    Am J Physiol Renal Physiol; 2014 Apr 15; 306(8):F833-43. PubMed ID: 24553430
    [Abstract] [Full Text] [Related]

  • 9. Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH.
    Levi M.
    Am J Physiol Renal Physiol; 2008 Aug 15; 295(2):F369-70. PubMed ID: 18524854
    [No Abstract] [Full Text] [Related]

  • 10. 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 15; 78(2):193-201. PubMed ID: 16358215
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 97():15-19. PubMed ID: 27939817
    [Abstract] [Full Text] [Related]

  • 12. Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
    Haito-Sugino S, Ito M, Ohi A, Shiozaki Y, Kangawa N, Nishiyama T, Aranami F, Sasaki S, Mori A, Kido S, Tatsumi S, Segawa H, Miyamoto K.
    Am J Physiol Cell Physiol; 2012 May 01; 302(9):C1316-30. PubMed ID: 22159077
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 50(5):1100-6. PubMed ID: 22387237
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 15. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
    Tencza AL, Ichikawa S, Dang A, Kenagy D, McCarthy E, Econs MJ, Levine MA.
    J Clin Endocrinol Metab; 2009 Nov 01; 94(11):4433-8. PubMed ID: 19820004
    [Abstract] [Full Text] [Related]

  • 16. Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development.
    Segawa H, Onitsuka A, Furutani J, Kaneko I, Aranami F, Matsumoto N, Tomoe Y, Kuwahata M, Ito M, Matsumoto M, Li M, Amizuka N, Miyamoto K.
    Am J Physiol Renal Physiol; 2009 Sep 01; 297(3):F671-8. PubMed ID: 19570882
    [Abstract] [Full Text] [Related]

  • 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 01; 91(10):4022-7. PubMed ID: 16849419
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 105(5):1058-1076. PubMed ID: 38364990
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 4(2):89-93. PubMed ID: 22672866
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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