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Items: 18

1.

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;91(11):4472-5. Epub 2006 Aug 29.

PMID:
16940445
3.

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Folsom LJ, Imel EA.

Curr Osteoporos Rep. 2015 Apr;13(2):78-87. doi: 10.1007/s11914-015-0254-3. Review.

PMID:
25656441
4.

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Farrow EG, Imel EA, White KE.

Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020. Review.

5.

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Chefetz I, Sprecher E.

Biochim Biophys Acta. 2009 Sep;1792(9):847-52. doi: 10.1016/j.bbadis.2008.10.008. Epub 2008 Oct 25. Review.

6.

Novel regulators of phosphate homeostasis and bone metabolism.

Jüppner H.

Ther Apher Dial. 2007 Oct;11 Suppl 1:S3-22. Review.

PMID:
17976082
7.

FGF23 and syndromes of abnormal renal phosphate handling.

Bergwitz C, Jüppner H.

Adv Exp Med Biol. 2012;728:41-64. doi: 10.1007/978-1-4614-0887-1_3. Review.

8.

Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature.

Ghafouri-Fard S, Abbasi F, Azizi F, Javaheri M, Mehdizadeh M, Setoodeh A.

J Pediatr Endocrinol Metab. 2015 Jan;28(1-2):231-5. doi: 10.1515/jpem-2014-0178. Review.

PMID:
25153226
9.

[Vascular Calcification - Pathological Mechanism and Clinical Application - . Regulation of mineral metabolism and mineralization by FGF23].

Fukumoto S.

Clin Calcium. 2015 May;25(5):687-91. doi: CliCa1505687691. Review. Japanese.

PMID:
25926572
10.

Fibrous dysplasia and fibroblast growth factor-23 regulation.

Boyce AM, Bhattacharyya N, Collins MT.

Curr Osteoporos Rep. 2013 Jun;11(2):65-71. doi: 10.1007/s11914-013-0144-5. Review.

11.

Review of tumoral calcinosis: A rare clinico-pathological entity.

Fathi I, Sakr M.

World J Clin Cases. 2014 Sep 16;2(9):409-14. doi: 10.12998/wjcc.v2.i9.409. Review.

12.

The role of bone in phosphate metabolism.

Fukumoto S.

Mol Cell Endocrinol. 2009 Oct 30;310(1-2):63-70. doi: 10.1016/j.mce.2008.08.031. Epub 2008 Sep 6. Review.

PMID:
18822343
13.
15.

Tumoral calcinosis: a dental literature review and case report.

Krstevska A, Gale S, Blair F.

Dent Update. 2012 Jul-Aug;39(6):416-8, 421. Review.

PMID:
22928454
16.

PHEX, FGF23, DMP1 and beyond.

Strom TM, Jüppner H.

Curr Opin Nephrol Hypertens. 2008 Jul;17(4):357-62. doi: 10.1097/MNH.0b013e3282fd6e5b. Review.

PMID:
18660670
17.

Genetic diseases resulting from disordered FGF23/klotho biology.

Econs MJ.

Bone. 2017 Jul;100:56-61. doi: 10.1016/j.bone.2016.10.015. Epub 2016 Oct 13. Review. No abstract available.

PMID:
27746322
18.

Familial tumoral calcinosis: a valuable vehicle for discovery.

Moe OW.

Nephrol Dial Transplant. 2014 Dec;29(12):2155-7. doi: 10.1093/ndt/gfu270. Epub 2014 Aug 21. Review. No abstract available.

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