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Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.
Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, 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, Chen A, Roberts MS, Ward LM. Imel EA, et al. Among authors: gottesman gs. J Clin Endocrinol Metab. 2023 Oct 18;108(11):2990-2998. doi: 10.1210/clinem/dgad230. J Clin Endocrinol Metab. 2023. PMID: 37084401 Free PMC article.
Marrow cell transplantation for infantile hypophosphatasia.
Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL. Whyte MP, et al. Among authors: gottesman gs. J Bone Miner Res. 2003 Apr;18(4):624-36. doi: 10.1359/jbmr.2003.18.4.624. J Bone Miner Res. 2003. PMID: 12674323 Free article.
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.
51 results