PMC Articles for MedGen (Select 1640532) - PMC

Select item 91760851.

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

Hakan Döneray, Ayşe Özden, Kadri Gürbüz

J Clin Res Pediatr Endocrinol. 2022 Jun; 14(2): 239–243. Published online 2022 Jun 7. doi: 10.4274/jcrpe.galenos.2021.2020.0269

PMCID:: PMC9176085

Article PDF–1.2M

Select item 77493472.

FGF23 contains two distinct high-affinity binding sites enabling bivalent interactions with α-Klotho

Yoshihisa Suzuki, Ekaterina Kuzina, Seong J. An, Francisco Tome, Jyotidarsini Mohanty, Wenxue Li, Sangwon Lee, Yansheng Liu, Irit Lax, Joseph Schlessinger

Proc Natl Acad Sci U S A. 2020 Dec 15; 117(50): 31800–31807. Published online 2020 Nov 30. doi: 10.1073/pnas.2018554117

PMCID:: PMC7749347

Article PDF–1.2M

Select item 63981943.

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey

Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bişgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz

J Clin Res Pediatr Endocrinol. 2019 Mar; 11(1): 94–99. Published online 2019 Feb 20. doi: 10.4274/jcrpe.galenos.2018.2018.0134

PMCID:: PMC6398194

Article PDF–887K

Select item 52340864.

FGF23 AND SYNDROMES OF ABNORMAL RENAL PHOSPHATE HANDLING

Clemens Bergwitz, Harald Jüppner

Adv Exp Med Biol. Author manuscript; available in PMC 2017 Jan 13.

Published in final edited form as: Adv Exp Med Biol. 2012; 728: 41–64. doi: 10.1007/978-1-4614-0887-1_3

PMCID:: PMC5234086

Article PDF–763K

Select item 34182375.

A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis

Christopher T. Esapa, Rosie A. Head, Jeshmi Jeyabalan, Holly Evans, Tertius A. Hough, Michael T. Cheeseman, Eugene G. McNally, Andrew J. Carr, Gethin P. Thomas, Matthew A. Brown, Peter I. Croucher, Steve D. M. Brown, Roger D. Cox, Rajesh V. Thakker

PLoS One. 2012; 7(8): e43205. Published online 2012 Aug 13. doi: 10.1371/journal.pone.0043205

PMCID:: PMC3418237

Article PDF–1.7M

Select item 33926546.

Clinical Variability of Familial Tumoral Calcinosis Caused by Novel GALNT3 Mutations

Shoji Ichikawa, Geneviève Baujat, Aksel Seyahi, Anastasia G. Garoufali, Erik A. Imel, Leah R. Padgett, Anthony M. Austin, Andrea H. Sorenson, Zagorka Pejin, Vicken Topouchian, Pierre Quartier, Valerie Cormier-Daire, Michele Dechaux, Fotini Ch. Malandrinou, Panagiotis N. Singhellakis, Martine Le Merrer, Michael J. Econs

Am J Med Genet A. Author manuscript; available in PMC 2012 Jul 10.

Published in final edited form as: Am J Med Genet A. 2010 Apr; 152A(4): 896–903. doi: 10.1002/ajmg.a.33337

PMCID:: PMC3392654

Article PDF–512K

Select item 32882317.

A Phex Mutation in a Murine Model of X-linked Hypophosphatemia Alters Phosphate Responsiveness of Bone Cells

Shoji Ichikawa, Anthony M. Austin, Amie K. Gray, Michael J. Econs

J Bone Miner Res. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: J Bone Miner Res. 2012 Feb; 27(2): 453–460. doi: 10.1002/jbmr.544

PMCID:: PMC3288231

Article PDF–447K

Select item 27756478.

Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis

Clemens Bergwitz, Santanu Banerjee, Hilal Abu-Zahra, Hiroshi Kaji, Akimitsu Miyauchi, Toshitsugu Sugimoto, Harald Jüppner

J Clin Endocrinol Metab. 2009 Nov; 94(11): 4267–4274. Published online 2009 Oct 16. doi: 10.1210/jc.2009-0961

PMCID:: PMC2775647

Article

Select item 26924689.

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

Claudia E. Dumitrescu, Marilyn H. Kelly, Azarmindokht Khosravi, Thomas C. Hart, Jaime Brahim, Kenneth E. White, Emily G. Farrow, Muriel H. Nathan, Mark D. Murphey, Michael T. Collins

Osteoporos Int. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Osteoporos Int. 2009 Jul; 20(7): 1273–1278. Published online 2008 Nov 4. doi: 10.1007/s00198-008-0775-z

PMCID:: PMC2692468

Article PDF–387K

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