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Journal Abstract Search

150 related items for PubMed ID: 35386604

  • 21. 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; 94(9-10):374-389. PubMed ID: 34666334
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  • 22. 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; 59():53-6. PubMed ID: 24176905
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  • 23. 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; 91(10):4022-7. PubMed ID: 16849419
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  • 24. 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; 78(2):193-201. PubMed ID: 16358215
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  • 25. 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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  • 26. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
    Abe Y, Nagasaki K, Watanabe T, Abe T, Fukami M.
    Horm Res Paediatr; 2014 Feb 14; 82(1):65-71. PubMed ID: 24924704
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  • 28. 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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  • 29. 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 14; 25(10):2366-75. PubMed ID: 24700880
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  • 30. Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction.
    Colazo JM, Reasoner SA, Holt G, Faugere MCM, Dahir KM.
    Case Rep Endocrinol; 2020 Oct 14; 2020():1047327. PubMed ID: 32695531
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  • 31. 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
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  • 32. SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS.
    Karakilic-Ozturan E, Ozturk AP, Oney C, Kardelen Al AD, Yildirim ZY, Balci HI, Poyrazoglu S, Bas F, Darendeliler F.
    Acta Endocrinol (Buchar); 2022 Oct 14; 18(3):387-391. PubMed ID: 36699160
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  • 38. Growth hormone therapy in HHRH.
    Filler G, Schott C, Salerno FR, Ens A, McIntyre CW, Díaz González de Ferris ME, Stein R.
    Bone Rep; 2022 Jun 14; 16():101591. PubMed ID: 35663378
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  • 39. Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl.
    Christensen S, Loomba LA.
    JCEM Case Rep; 2023 Jan 14; 1(1):luac022. PubMed ID: 37908277
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  • 40. HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.
    Bhadada SK, Sridhar S, Dhiman V, Wong K, Bennetts B, Naot D, Jayaraman S, Cundy T.
    AACE Clin Case Rep; 2020 Jan 14; 6(3):e105-e112. PubMed ID: 32524022
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