241 related articles for article (PubMed ID: 30226830)
1. 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; 128(12):5368-5373. PubMed ID: 30226830
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
Ito N; Fukumoto S
Calcif Tissue Int; 2021 Jan; 108(1):104-115. PubMed ID: 31965220
[TBL] [Abstract][Full Text] [Related]
4. Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.
Boyce AM; Lee AE; Roszko KL; Gafni RI
Front Endocrinol (Lausanne); 2020; 11():293. PubMed ID: 32457699
[TBL] [Abstract][Full Text] [Related]
5. 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; 93():187-195. PubMed ID: 26620085
[TBL] [Abstract][Full Text] [Related]
6. 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; 15():98. PubMed ID: 25249269
[TBL] [Abstract][Full Text] [Related]
7. 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; 137():115401. PubMed ID: 32360901
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. A novel
Zuo Q; Yang W; Liu B; Yan D; Wang Z; Wang H; Deng W; Cao X; Yang J
Front Endocrinol (Lausanne); 2022; 13():1008800. PubMed ID: 36213261
[TBL] [Abstract][Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. 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
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in
Kışla Ekinci RM; Gürbüz F; Balcı S; Bişgin A; Taştan M; Yüksel B; Yılmaz M
J Clin Res Pediatr Endocrinol; 2019 Feb; 11(1):94-99. PubMed ID: 30015621
[TBL] [Abstract][Full Text] [Related]
14. 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; 43(8):1125-1130. PubMed ID: 32125652
[TBL] [Abstract][Full Text] [Related]
15. 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; 92(5):1943-7. PubMed ID: 17311862
[TBL] [Abstract][Full Text] [Related]
16. A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a
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; 32(3):161-167. PubMed ID: 37362161
[TBL] [Abstract][Full Text] [Related]
17. 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
Döneray H; Özden A; Gürbüz K
J Clin Res Pediatr Endocrinol; 2022 Jun; 14(2):239-243. PubMed ID: 33685073
[TBL] [Abstract][Full Text] [Related]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. 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; 164A(6):1545-9. PubMed ID: 24668887
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
