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Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.
Padidela R, Whyte MP, Glorieux FH, Munns CF, Ward LM, Nilsson O, Portale AA, Simmons JH, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Williams A, Nixon A, Sun W, Chen A, Skrinar A, Imel EA. Padidela R, et al. Among authors: gottesman gs. Calcif Tissue Int. 2021 May;108(5):622-633. doi: 10.1007/s00223-020-00797-x. Epub 2021 Jan 23. Calcif Tissue Int. 2021. PMID: 33484279 Free PMC article. Clinical Trial.
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Mumm S, Huskey M, Duan S, Wenkert D, Madson KL, Gottesman GS, Nenninger AR, Laxer RM, McAlister WH, Whyte MP. Mumm S, et al. Among authors: gottesman gs. Am J Med Genet A. 2014 Sep;164A(9):2287-93. doi: 10.1002/ajmg.a.36641. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989131 Free PMC article.
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
Mumm S, Huskey M, Cajic A, Wollberg V, Zhang F, Madson KL, Wenkert D, McAlister WH, Gottesman GS, Whyte MP. Mumm S, et al. Among authors: gottesman gs. J Bone Miner Res. 2015 Jan;30(1):137-43. doi: 10.1002/jbmr.2307. J Bone Miner Res. 2015. PMID: 25042154 Free article. Clinical Trial.
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.
Whyte MP, Lim E, McAlister WH, Gottesman GS, Trinh L, Veis DJ, Bijanki VN, Boden MG, Nenninger A, Mumm S, Buchbinder D. Whyte MP, et al. Among authors: gottesman gs. J Bone Miner Res. 2018 Nov;33(11):2071-2080. doi: 10.1002/jbmr.3532. Epub 2018 Jul 30. J Bone Miner Res. 2018. PMID: 29933504 Free PMC article.
52 results