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Quoted phrase not found in phrase index: "Tumoral calcinosis, hyperphosphatemic, familial, 3"
Page 1
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms.
Finer G, Price HE, Shore RM, White KE, Langman CB. Finer G, et al. Am J Med Genet A. 2014 Jun;164A(6):1545-9. doi: 10.1002/ajmg.a.36476. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668887

At the age of 9.5 years, acetazolamide (40 mg/kg/day) was added and resulted in mild metabolic acidosis (bicarbonate 25.3 mEq/L vs. 21.4 mEq/L, P < 0.001; serum pH 7.38 vs. 7.31, P = 0.013, pre- and post-acetazolamide, respectively) but no change in tubular reabsorption

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At the age of 9.5 years, acetazolamide (40 mg/kg/day) was added and resulted in mild metabolic acidosis (bicarbonate 25.3 mEq/L vs. 2 …
Use of Teriparatide in Hyperphosphatemic Familial Tumor Calcinosis: Evaluating the Interaction Between FGF23 and PTH on the Phosphaturic Effect.
Pallone SG, Kunii IS, da Silva REC, Lazaretti-Castro M. Pallone SG, et al. Calcif Tissue Int. 2022 Jul;111(1):102-106. doi: 10.1007/s00223-022-00969-x. Epub 2022 Mar 25. Calcif Tissue Int. 2022. PMID: 35338393
As urinalysis was not feasible at the end of the 36-day cycle, a second cycle was performed for another 28 days, producing a similar decrease in P (from 6.4 to 5.5 mg/mL) and an evident decrease in the rate of tubular reabsorption of P (from 97.2 to 85.3%), however, accomp …
As urinalysis was not feasible at the end of the 36-day cycle, a second cycle was performed for another 28 days, producing a similar decreas …
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V. Jost J, et al. J Clin Endocrinol Metab. 2016 Jul;101(7):2810-5. doi: 10.1210/jc.2016-1087. Epub 2016 May 10. J Clin Endocrinol Metab. 2016. PMID: 27163355
PATIENTS OR OTHER PARTICIPANTS: Three patients admitted to 3 different hospitals with an ectopic calcification secondary to HFTC or HHS were treated with topical STS. INTERVENTION: The topical STS was applied daily by the patients. RESULTS: A significant clinical an …
PATIENTS OR OTHER PARTICIPANTS: Three patients admitted to 3 different hospitals with an ectopic calcification secondary to HFTC or H …
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. Ramnitz MS, et al. J Bone Miner Res. 2016 Oct;31(10):1845-1854. doi: 10.1002/jbmr.2870. Epub 2016 Sep 20. J Bone Miner Res. 2016. PMID: 27164190 Free PMC article. Clinical Trial.
Eight subjects with FTC/HHS were studied and treated. Clinical manifestations varied, even within families, ranging from asymptomatic to large, disabling calcifications. ...This cohort expands the phenotype and genotype of FTC/HHS and demonstrates the range of clinical …
Eight subjects with FTC/HHS were studied and treated. Clinical manifestations varied, even within families, ranging from asymptomatic …
Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23.
Ramadan AR, Shawar SM, Alghamdi MA. Ramadan AR, et al. Horm Res Paediatr. 2016;86(1):45-52. doi: 10.1159/000447113. Epub 2016 Jun 30. Horm Res Paediatr. 2016. PMID: 27355663 Clinical Trial.
None of the mutations could be identified using standard restriction fragment length polymorphism. The only technique currently available to confirm the clinical diagnosis is DNA sequencing. METHODS: Using a tri-primer ARMS-PCR, in vitro site-directed mutagenesis and DNA s …
None of the mutations could be identified using standard restriction fragment length polymorphism. The only technique currently available to …