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Journal Abstract Search

195 related items for PubMed ID: 32311027

  • 21. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
    Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H.
    J Clin Endocrinol Metab; 2012 Oct; 97(10):E1978-86. PubMed ID: 22865906
    [Abstract] [Full Text] [Related]

  • 22. 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; 297(3):F671-8. PubMed ID: 19570882
    [Abstract] [Full Text] [Related]

  • 23. 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 Sep; 12():1759720X20912862. PubMed ID: 32963591
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. 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 03; 91(10):4022-7. PubMed ID: 16849419
    [Abstract] [Full Text] [Related]

  • 26. Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
    Wagner CA, Rubio-Aliaga I, Hernando N.
    Pediatr Nephrol; 2019 Apr 03; 34(4):549-559. PubMed ID: 29275531
    [Abstract] [Full Text] [Related]

  • 27. 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 03; 47(6):511-519. PubMed ID: 30798342
    [Abstract] [Full Text] [Related]

  • 28. A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
    Giusti F, Marini F, Al-Alwani H, Marasco E, Garagnani P, Khan AA, Brandi ML.
    Int J Mol Sci; 2023 Dec 09; 24(24):. PubMed ID: 38139117
    [Abstract] [Full Text] [Related]

  • 29. [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
    [Abstract] [Full Text] [Related]

  • 30. Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.
    Yu S, Chen WX, Lu W, Chen C, Ni Y, Duan B, Wang B, Wang H, Xu ZM.
    Mol Genet Genomic Med; 2020 May 10; 8(5):e1222. PubMed ID: 32155322
    [Abstract] [Full Text] [Related]

  • 31. Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.
    Dodamani MH, Memon SS, Karlekar M, Lila AR, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil VA, Shah NS, Bergwitz C, Bandgar TR.
    Calcif Tissue Int; 2024 Feb 10; 114(2):137-146. PubMed ID: 37981601
    [Abstract] [Full Text] [Related]

  • 32. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
    Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C.
    Am J Physiol Renal Physiol; 2008 Aug 10; 295(2):F371-9. PubMed ID: 18480181
    [Abstract] [Full Text] [Related]

  • 33. 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 10; 25(10):2366-75. PubMed ID: 24700880
    [Abstract] [Full Text] [Related]

  • 34. 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 Oct 10; 94(9-10):374-389. PubMed ID: 34666334
    [Abstract] [Full Text] [Related]

  • 35. A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report.
    Chen X, Xie Y, Wan S, Xu J, Cai B, Zhang Y, Yu X.
    Medicine (Baltimore); 2019 May 10; 98(20):e15617. PubMed ID: 31096470
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. 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 Jul 17; 13(3):e0193388. PubMed ID: 29505567
    [Abstract] [Full Text] [Related]

  • 38. 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
    [Abstract] [Full Text] [Related]

  • 39. A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3.
    Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K.
    Endocr Pract; 2008 Oct 14; 14(7):869-74. PubMed ID: 18996815
    [Abstract] [Full Text] [Related]

  • 40. Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.
    Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K.
    J Bone Miner Metab; 2007 Oct 14; 25(6):407-13. PubMed ID: 17968493
    [Abstract] [Full Text] [Related]

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