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1984 1
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Page 1
Parathyroid hormone-dependent hypercalcemia.
Toke J, Patócs A, Balogh K, Gergics P, Stenczer B, Rácz K, Tóth M. Toke J, et al. Wien Klin Wochenschr. 2009;121(7-8):236-45. doi: 10.1007/s00508-009-1149-z. Wien Klin Wochenschr. 2009. PMID: 19562279 Review.
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.
Steinmann B, Gnehm HE, Rao VH, Kind HP, Prader A. Steinmann B, et al. Helv Paediatr Acta. 1984 May;39(2):171-86. Helv Paediatr Acta. 1984. PMID: 6543841
We describe a study of a boy with neonatal severe primary hyperparathyroidism (NSPHP) and alkaptonuria born to related parents of Turkish origin. The clinical and chemical courses (e.g. of mineral metabolism, of urinary excretion of amino acids and collagen metabolites) in …
We describe a study of a boy with neonatal severe primary hyperparathyroidism (NSPHP) and alkaptonuria born to related parents of Turkish or …
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV. Hannan FM, et al. Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422767
The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that has an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium (Ca(2+))-binding sites. To elucidate the structure-function relationships of the VFTD, we investigated 294 un …
The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that has an extracellular bilobed venus flytrap domain (VFTD) predict …