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Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA. Imel EA, et al. Among authors: gottesman gs. Lancet. 2019 Jun 15;393(10189):2416-2427. doi: 10.1016/S0140-6736(19)30654-3. Epub 2019 May 16. Lancet. 2019. PMID: 31104833 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.
52 results