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585 results

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Page 1
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: giugliani r. Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1. Mol Genet Metab. 2014. PMID: 24125893
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Azevedo AC, et al. Among authors: giugliani c, giugliani r. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318
Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
Schwartz IVD, Pinto LLC, Breda G, Lima L, Ribeiro MG, Mota JG, Acosta AX, Correia P, Horovitz DDG, Porciuncula CGG, Lipinski-Figueiredo E, Fett-Conte AC, Oliveira Sobrinho RP, Norato DYJ, Paula AC, Kim CA, Duarte AR, Boy R, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IVD, et al. Among authors: giugliani r. J Inherit Metab Dis. 2009 Dec;32(6):732-738. doi: 10.1007/s10545-009-1275-9. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821143
Unique frequency of known mutations in Brazilian MPS I patients.
Matte U, Leistner S, Lima L, Schwartz I, Giugliani R. Matte U, et al. Among authors: giugliani r. Am J Med Genet. 2000 Jan 17;90(2):108-9. doi: 10.1002/(sici)1096-8628(20000117)90:2<108::aid-ajmg3>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10607946
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. Among authors: giugliani r. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960
Universal newborn screening: A roadmap for action.
Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB. Howson CP, et al. Among authors: giugliani r. Mol Genet Metab. 2018 Jul;124(3):177-183. doi: 10.1016/j.ymgme.2018.04.009. Epub 2018 Apr 25. Mol Genet Metab. 2018. PMID: 29884465
585 results