Results 31 to 40 of about 2,912,781 (218)

A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation. [PDF]

Front Endocrinol (Lausanne), 2022
Background Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare disease characterized by hyperphosphatemia and ectopic calcification, predominantly at periarticular locations.
Zuo Q, Yang W, Liu B, Yan D, Wang Z, Wang H, Deng W, Cao X, Yang J.   +8 more
europepmc   +2 more sources

Familial tumoral calcinosis in two Chinese patients: a case series [PDF]

Journal of Medical Case Reports, 2011
Introduction Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints.
Cheng Xiaoli, Gu Jiaowei, Zhang Che, Xiong Kui   +3 more
doaj   +4 more sources

Multiple uremic tumoral calcinosis in periarticular soft tissues with chronic renal failure: a case report. [PDF]

Front Endocrinol (Lausanne), 2023
He L, Li M, Lin C, Yan K, Yang C, Tang J.   +5 more
europepmc   +3 more sources

A Case Report of Chronic Kidney Disease Stage 5 Complicated with Uremic Tumor Calcinosis [PDF]

Uremic tumor calcinosis (UTC) represents an extremely rare complication associated with chronic kidney disease (CKD), prominently characterized by the occurrence of ectopic calcification. The incidence of UTC among uremic peritoneal dialysis patients has
Li, Wei Wei, Wang, Yu
core   +4 more sources

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome [PDF]

Journal of Bone and Mineral Research, 2016
Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO.
Pravitt Gourh, Raphaela T Goldbach-Mansky, Shoji Ichikawa   +2 more
exaly   +3 more sources

Tumoral Calcinosis of the Thoracolumbar Spine Associated With Adjacent Segment Degeneration After Lumber Fusion: A Case of Myelopathy. [PDF]

Cureus
Kobayashi Y, Inoue T, Motegi H.
europepmc   +3 more sources

Familial Hyperphosphatemic Tumoral Calcinosis. [PDF]

AACE Clin Case Rep, 2023
Saifuddin M, Prasad I, Sharifuzzaman M, Islam M, Hossain M.   +4 more
europepmc   +2 more sources

Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report

Reumatismo
In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described.
Gianluigi Fabbriciani, Alessandra Colombini, Chiara Messina, Giovanni Adami   +3 more
openalex   +2 more sources

Tumoral calcinosis producing peripheral nerve compression of the suprascapular nerve: A case report. [PDF]

Radiol Case Rep
Ayoub E, Youssef B, Badr B, Meriem OI, Najate CIE.   +4 more
europepmc   +2 more sources

A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis. [PDF]

Mol Genet Metab Rep
Wu A, Yang B, Yu X.
europepmc   +2 more sources