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Journal Abstract Search

284 related items for PubMed ID: 17630616

  • 21. Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
    Kienitz T, Ventz M, Kaminsky E, Quinkler M.
    Exp Clin Endocrinol Diabetes; 2011 Jul; 119(7):431-5. PubMed ID: 21553362
    [Abstract] [Full Text] [Related]

  • 22. Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
    Clausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F.
    Calcif Tissue Int; 2009 Sep; 85(3):211-20. PubMed ID: 19513579
    [Abstract] [Full Text] [Related]

  • 23. Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders.
    Tenenhouse HS, Sabbagh Y.
    Pflugers Arch; 2002 Jun; 444(3):317-26. PubMed ID: 12111239
    [Abstract] [Full Text] [Related]

  • 24. [Epidemiology of FGF23-related hypophosophatemic diseases].
    Endo I.
    Clin Calcium; 2016 Feb; 26(2):223-31. PubMed ID: 26813502
    [Abstract] [Full Text] [Related]

  • 25. [From gene to disease; hypophosphataemic rickets and the PHEX gene].
    Jansen M, van Dael CM, Verrijn Stuart AA, van der Hout AH, Rump P.
    Ned Tijdschr Geneeskd; 2006 Jun 24; 150(25):1390-4. PubMed ID: 16841587
    [Abstract] [Full Text] [Related]

  • 26. A clinical and molecular genetic study of hypophosphatemic rickets in children.
    Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y.
    Pediatr Res; 2005 Aug 24; 58(2):329-33. PubMed ID: 16055933
    [Abstract] [Full Text] [Related]

  • 27. A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice.
    Xiong X, Qi X, Ge X, Gu P, Zhao J, Zhao Q, Gao X.
    J Biomed Sci; 2008 Jan 24; 15(1):47-59. PubMed ID: 17710565
    [Abstract] [Full Text] [Related]

  • 28. [Clinical aspect of recent progress in phosphate metabolism. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23)].
    Endo I.
    Clin Calcium; 2009 Jun 24; 19(6):815-20. PubMed ID: 19483276
    [Abstract] [Full Text] [Related]

  • 29. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
    Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K.
    J Hum Genet; 2012 Jul 24; 57(7):453-8. PubMed ID: 22695891
    [Abstract] [Full Text] [Related]

  • 30. The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport.
    Levine BS, Kleeman CR, Felsenfeld AJ.
    Clin J Am Soc Nephrol; 2009 Nov 24; 4(11):1866-77. PubMed ID: 19808223
    [Abstract] [Full Text] [Related]

  • 31. [Endocrine diseases accompanied by hypophosphatemia or hyperphosphatemia].
    Nakayama K.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():542-52. PubMed ID: 17022606
    [No Abstract] [Full Text] [Related]

  • 32. A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.
    Econs MJ, Friedman NE, Rowe PS, Speer MC, Francis F, Strom TM, Oudet C, Smith JA, Ninomiya JT, Lee BE, Bergen H.
    J Clin Endocrinol Metab; 1998 Oct 28; 83(10):3459-62. PubMed ID: 9768646
    [Abstract] [Full Text] [Related]

  • 33. [Familial hypophosphatemic rickets].
    Reusz G.
    Orv Hetil; 2001 Dec 02; 142(48):2659-65. PubMed ID: 11778363
    [Abstract] [Full Text] [Related]

  • 34. A familial disorder with low bone density and renal phosphate wasting.
    Grondel IM, van der Deure J, Zanen AL, Dogger M, van den Heuvel LP.
    Eur J Intern Med; 2009 Sep 02; 20(5):503-8. PubMed ID: 19712854
    [Abstract] [Full Text] [Related]

  • 35. [Hypophosphatemia and rickets/osteomalacia].
    Tanaka H.
    Clin Calcium; 2001 Oct 02; 11(10):1282-9. PubMed ID: 15775641
    [Abstract] [Full Text] [Related]

  • 36. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.
    Razali NN, Hwu TT, Thilakavathy K.
    J Pediatr Endocrinol Metab; 2015 Sep 02; 28(9-10):1009-17. PubMed ID: 25894638
    [Abstract] [Full Text] [Related]

  • 37. Hypophosphatemic rickets.
    Baroncelli GI, Toschi B, Bertelloni S.
    Curr Opin Endocrinol Diabetes Obes; 2012 Dec 02; 19(6):460-7. PubMed ID: 23108197
    [Abstract] [Full Text] [Related]

  • 38. X-linked hypophosphatemic rickets associated with respiratory failure.
    Balazs A, Jeha G, Gunn SK, Karaviti LP.
    Clin Pediatr (Phila); 2008 Apr 02; 47(3):293-5. PubMed ID: 18057152
    [Abstract] [Full Text] [Related]

  • 39. Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia.
    Goljanek-Whysall K, Tridimas A, McCormick R, Russell NJ, Sloman M, Sorani A, Fraser WD, Hannan FM.
    Bone; 2018 Jan 02; 106():30-34. PubMed ID: 28982589
    [Abstract] [Full Text] [Related]

  • 40. A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
    Kim J, Yang KH, Nam JS, Choi JR, Song J, Chang M, Lee KA.
    Ann Clin Lab Sci; 2009 Jan 02; 39(2):182-7. PubMed ID: 19429806
    [Abstract] [Full Text] [Related]

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