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Journal Abstract Search

258 related items for PubMed ID: 32457699

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  • 3. 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
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  • 4. Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
    Roberts MS, Burbelo PD, Egli-Spichtig D, Perwad F, Romero CJ, Ichikawa S, Farrow E, Econs MJ, Guthrie LC, Collins MT, Gafni RI.
    J Clin Invest; 2018 Dec 03; 128(12):5368-5373. PubMed ID: 30226830
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  • 6. 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 03; 33(7):1263-1267. PubMed ID: 29594503
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  • 8. Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
    Ito N, Fukumoto S.
    Calcif Tissue Int; 2021 Jan 03; 108(1):104-115. PubMed ID: 31965220
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  • 10. 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 Jan 03; 13():1008800. PubMed ID: 36213261
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  • 12. Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
    Mahjoubi F, Ghadir M, Samanian S, Heydari I, Honardoost M.
    J Endocrinol Invest; 2020 Aug 03; 43(8):1125-1130. PubMed ID: 32125652
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  • 13. 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
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  • 14. Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
    Liu C, Pang Q, Jiang Y, Xia Y, Fang L, Wang O, Li M, Xing X, Gong Y, Xia W.
    Bone; 2020 Aug 20; 137():115401. PubMed ID: 32360901
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  • 16. Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms.
    Finer G, Price HE, Shore RM, White KE, Langman CB.
    Am J Med Genet A; 2014 Jun 20; 164A(6):1545-9. PubMed ID: 24668887
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  • 17. A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant.
    Nishimura-Kinoshita N, Ohata Y, Sawai H, Izawa M, Takeyari S, Kubota T, Omae Y, Ozono K, Tokunaga K, Hamajima T.
    Clin Pediatr Endocrinol; 2023 Jun 20; 32(3):161-167. PubMed ID: 37362161
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  • 19. The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23.
    Döneray H, Özden A, Gürbüz K.
    J Clin Res Pediatr Endocrinol; 2022 Jun 07; 14(2):239-243. PubMed ID: 33685073
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