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Page 1
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L, Bastos Pereira DM, Durán-Carabali LE, Giugliani R. Stockler-Ipsiroglu S, et al. Among authors: giugliani r, giugliani l. JIMD Rep. 2021 Mar 8;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258138 Free PMC article.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV. Artigalás O, et al. Among authors: giugliani r. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S257-62. doi: 10.1007/s10545-010-9140-4. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596894
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, Horovitz DD, Ribeiro EM, Valadares ER, Goulart I, Neves de Souza IC, da Costa Neri JI, Santana-da-Silva LC, Silva LR, Ribeiro M, de Oliveira Sobrinho RP, Giugliani R, Schwartz IV. Dornelles AD, et al. Among authors: giugliani r. Genet Mol Biol. 2014 Mar;37(1):23-9. doi: 10.1590/s1415-47572014000100006. Epub 2013 Feb 28. Genet Mol Biol. 2014. PMID: 24688287 Free PMC article.
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R. Vairo F, et al. Among authors: giugliani r. Appl Clin Genet. 2015 Oct 30;8:245-55. doi: 10.2147/TACG.S68650. eCollection 2015. Appl Clin Genet. 2015. PMID: 26586959 Free PMC article. Review.
Emerging drugs for the treatment of mucopolysaccharidoses.
Giugliani R, Federhen A, Vairo F, Vanzella C, Pasqualim G, da Silva LM, Giugliani L, de Boer AP, de Souza CF, Matte U, Baldo G. Giugliani R, et al. Among authors: giugliani l. Expert Opin Emerg Drugs. 2016;21(1):9-26. doi: 10.1517/14728214.2016.1123690. Epub 2016 Jan 9. Expert Opin Emerg Drugs. 2016. PMID: 26751109 Review.
584 results