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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: vedolin l. 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
X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil.
Jardim LB, da Silva AC, Blank D, Villanueva MM, Renck L, Costa ML, Vargas CR, Deon M, Coelho Dl, Vedolin L, de Castro CG Jr, Gregianin L, Bonfim C, Giugliani R. Jardim LB, et al. Among authors: vedolin l. Brain Dev. 2010 Mar;32(3):180-90. doi: 10.1016/j.braindev.2009.02.002. Epub 2009 Mar 6. Brain Dev. 2010. PMID: 19269120
61 results