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Journal Abstract Search

302 related items for PubMed ID: 29548779

  • 1. Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.
    Goldenstein PT, Neves PD, Balbo BE, Elias RM, Pereira AC, Onuchic LF, Jüppner H, Jorgetti V, Abensur H, Moysés RM.
    Am J Kidney Dis; 2018 Sep; 72(3):457-461. PubMed ID: 29548779
    [Abstract] [Full Text] [Related]

  • 2. Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.
    Folsom LJ, Imel EA.
    Curr Osteoporos Rep; 2015 Apr; 13(2):78-87. PubMed ID: 25656441
    [Abstract] [Full Text] [Related]

  • 3. Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
    Claramunt-Taberner D, Bertholet-Thomas A, Carlier MC, Dijoud F, Chotel F, Silve C, Bacchetta J.
    Pediatr Nephrol; 2018 Jul; 33(7):1263-1267. PubMed ID: 29594503
    [Abstract] [Full Text] [Related]

  • 4. Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.
    Chakhtoura M, Ramnitz MS, Khoury N, Nemer G, Shabb N, Abchee A, Berberi A, Hourani M, Collins M, Ichikawa S, El Hajj Fuleihan G.
    Osteoporos Int; 2018 Sep; 29(9):1987-2009. PubMed ID: 29923062
    [Abstract] [Full Text] [Related]

  • 5. Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
    Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT.
    J Bone Miner Res; 2016 Oct; 31(10):1845-1854. PubMed ID: 27164190
    [Abstract] [Full Text] [Related]

  • 6. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
    Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, White KE, Farrow EG, Nathan MH, Murphey MD, Collins MT.
    Osteoporos Int; 2009 Jul; 20(7):1273-8. PubMed ID: 18982401
    [Abstract] [Full Text] [Related]

  • 7. Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.
    Shah A, Miller CJ, Nast CC, Adams MD, Truitt B, Tayek JA, Tong L, Mehtani P, Monteon F, Sedor JR, Clinkenbeard EL, White K, Mehrotra R, LaPage J, Dickson P, Adler SG, Iyengar SK.
    Nephrol Dial Transplant; 2014 Dec; 29(12):2235-43. PubMed ID: 25378588
    [Abstract] [Full Text] [Related]

  • 8. A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.
    Zuo Q, Yang W, Liu B, Yan D, Wang Z, Wang H, Deng W, Cao X, Yang J.
    Front Endocrinol (Lausanne); 2022 Dec; 13():1008800. PubMed ID: 36213261
    [Abstract] [Full Text] [Related]

  • 9. Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey.
    Kışla Ekinci RM, Gürbüz F, Balcı S, Bişgin A, Taştan M, Yüksel B, Yılmaz M.
    J Clin Res Pediatr Endocrinol; 2019 Feb 20; 11(1):94-99. PubMed ID: 30015621
    [Abstract] [Full Text] [Related]

  • 10. A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.
    Masi L, Gozzini A, Franchi A, Campanacci D, Amedei A, Falchetti A, Franceschelli F, Marcucci G, Tanini A, Capanna R, Brandi ML.
    J Bone Joint Surg Am; 2009 May 20; 91(5):1190-8. PubMed ID: 19411468
    [Abstract] [Full Text] [Related]

  • 11. Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
    Ito N, Fukumoto S.
    Calcif Tissue Int; 2021 Jan 20; 108(1):104-115. PubMed ID: 31965220
    [Abstract] [Full Text] [Related]

  • 12. FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.
    Shawar SM, Ramadan AR, Ali BR, Alghamdi MA, John A, Hudaib FM.
    Bone; 2016 Dec 20; 93():187-195. PubMed ID: 26620085
    [Abstract] [Full Text] [Related]

  • 13. Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
    Rafaelsen S, Johansson S, Ræder H, Bjerknes R.
    BMC Genet; 2014 Sep 24; 15():98. PubMed ID: 25249269
    [Abstract] [Full Text] [Related]

  • 14. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
    Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ.
    J Clin Endocrinol Metab; 2007 May 24; 92(5):1943-7. PubMed ID: 17311862
    [Abstract] [Full Text] [Related]

  • 15. Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.
    Boyce AM, Lee AE, Roszko KL, Gafni RI.
    Front Endocrinol (Lausanne); 2020 May 24; 11():293. PubMed ID: 32457699
    [Abstract] [Full Text] [Related]

  • 16. Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer.
    Lammoglia JJ, Mericq V.
    Horm Res; 2009 May 24; 71(3):178-84. PubMed ID: 19188744
    [Abstract] [Full Text] [Related]

  • 17. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.
    Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ.
    J Clin Endocrinol Metab; 2006 Nov 24; 91(11):4472-5. PubMed ID: 16940445
    [Abstract] [Full Text] [Related]

  • 18.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Ramnitz MS, Gafni RI, Collins MT.
    ; 1993 Nov 24. PubMed ID: 29389098
    [Abstract] [Full Text] [Related]

  • 19. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.
    Ichikawa S, Sorenson AH, Austin AM, Mackenzie DS, Fritz TA, Moh A, Hui SL, Econs MJ.
    Endocrinology; 2009 Jun 24; 150(6):2543-50. PubMed ID: 19213845
    [Abstract] [Full Text] [Related]

  • 20. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
    Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ.
    Am J Med Genet A; 2010 Apr 24; 152A(4):896-903. PubMed ID: 20358599
    [Abstract] [Full Text] [Related]

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