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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, Brustolin S, Llerena J, Moraes L, Vedolin L, Schuch A, Giugliani R, Schwartz IV. de Camargo Pinto LL, et al. Among authors: llerena j. Am J Med Genet A. 2011 Jan;155A(1):50-7. doi: 10.1002/ajmg.a.33770. Am J Med Genet A. 2011. PMID: 21204210
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Barth AL, de Magalhães TSPC, Reis ABR, de Oliveira ML, Scalco FB, Cavalcanti NC, Silva DSE, Torres DA, Costa AAP, Bonfim C, Giugliani R, Llerena JC Jr, Horovitz DDG. Barth AL, et al. Mol Genet Metab Rep. 2017 Jun 8;12:62-68. doi: 10.1016/j.ymgmr.2017.05.010. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28649514 Free PMC article.
The Brazilian consensus on the management of Pompe disease.
Llerena JC Jr, Horovitz DM, Marie SK, Porta G, Giugliani R, Rojas MV, Martins AM; Brazilian Network for Studies in Pompe Disease (ReBrPOM). Llerena JC Jr, et al. J Pediatr. 2009 Oct;155(4 Suppl):S47-56. doi: 10.1016/j.jpeds.2009.07.006. J Pediatr. 2009. PMID: 19765410 Review. No abstract available.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Giugliani R, Federhen A, Rojas MV, Vieira T, Artigalás O, Pinto LL, Azevedo AC, Acosta A, Bonfim C, Lourenço CM, Kim CA, Horovitz D, Bonfim D, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares E, Guarany F, de Lucca GR, Pimentel H, de Souza IN, Correa J Sr, Fraga JC, Goes JE, Cabral JM, Simionato J, Llerena J Jr, Jardim L, Giuliani L, da Silva LC, Santos ML, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza C, Alcantara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Among authors: llerena j jr. Genet Mol Biol. 2010 Oct;33(4):589-604. doi: 10.1590/S1415-47572010005000093. Epub 2010 Dec 1. Genet Mol Biol. 2010. PMID: 21637564 Free PMC article.
134 results