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Journal Abstract Search

485 related items for PubMed ID: 16358215

  • 21. 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; 105(5):1058-1076. PubMed ID: 38364990
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  • 22. 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; 37(8):1580-1591. PubMed ID: 35689455
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  • 23. 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; 47(6):511-519. PubMed ID: 30798342
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  • 25. 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
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  • 26. Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.
    Christensen S, Tebben PJ, Sas D, Creo AL.
    Horm Res Paediatr; 2021 Jul 17; 94(9-10):374-389. PubMed ID: 34666334
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  • 28. 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 17; 91(10):4022-7. PubMed ID: 16849419
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  • 30. Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
    Wagner CA, Rubio-Aliaga I, Hernando N.
    Pediatr Nephrol; 2019 Apr 17; 34(4):549-559. PubMed ID: 29275531
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  • 33. Hereditary hypophosphatemias: new genes in the bone-kidney axis.
    Negri AL.
    Nephrology (Carlton); 2007 Aug 17; 12(4):317-20. PubMed ID: 17635744
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  • 34. Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
    Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Çatli G, Anık A, Al-Enezi AF, Özışık S, Al-Faham MSA, Abacı A, Dündar B, Kattan WE, Alsagob M, Kavukçu S, Tamimi HE, Meyer BF, Böber E, Shi Y.
    PLoS One; 2018 Aug 17; 13(3):e0193388. PubMed ID: 29505567
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  • 35. 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
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  • 36. [Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria].
    Liu L, Gao X, Ma Y, Jia S, Li J, Ni F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun 10; 37(6):637-640. PubMed ID: 32472541
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  • 37. Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH.
    Tang AR, Hinz LE, Khan A, Kline GA.
    Endocrinol Diabetes Metab Case Rep; 2019 Jul 26; 2019(1):1-6. PubMed ID: 31352694
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  • 38. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.
    Razali NN, Hwu TT, Thilakavathy K.
    J Pediatr Endocrinol Metab; 2015 Sep 26; 28(9-10):1009-17. PubMed ID: 25894638
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  • 39. Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.
    Wang L, Kulaixi G, Zaiyinati J, Aibai G, Du D, Guo Y.
    BMC Pediatr; 2024 Feb 14; 24(1):121. PubMed ID: 38355430
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  • 40. Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone.
    Dreimane D, Chen A, Bergwitz C.
    Ther Adv Musculoskelet Dis; 2020 Feb 14; 12():1759720X20912862. PubMed ID: 32963591
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