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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. 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
Evidence-Based Checklist to Delay Cardiac Arrest in Brain-Dead Potential Organ Donors: The DONORS Cluster Randomized Clinical Trial.
Westphal GA, Robinson CC, Giordani NE, Teixeira C, Rohden AI, Dos Passos Gimenes B, Guterres CM, Madalena IC, Andrighetto LV, Souza da Silva S, Barbosa da Silva D, Sganzerla D, Cavalcanti AB, Franke CA, Bozza FA, Machado FR, de Andrade J, Pontes Azevedo LC, Schneider S, Orlando BR, Grion CMC, Bezerra FA, Roman FR, Leite FO Jr, Ferraz Siqueira ÍL, Oliveira JFP, de Oliveira LC Jr, de Melo MFRB, Leal PBGP, Diniz PC, Moraes RB, Salomão Pontes DF, Araújo Queiroz JE, Hammes LS, Meade MO, Rosa RG, Falavigna M; DONORS (Donation Network to Optimize Organ Recovery Study) Investigators and the BRICNet (Brazilian Research in Intensive Care Network). Westphal GA, et al. JAMA Netw Open. 2023 Dec 1;6(12):e2346901. doi: 10.1001/jamanetworkopen.2023.46901. JAMA Netw Open. 2023. PMID: 38095899 Free PMC article. Clinical Trial.
66 results