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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.
Clinical research challenges in rare genetic diseases in Brazil.
Giugliani L, Vanzella C, Zambrano MB, Donis KC, Wallau TKW, Costa FMD, Giugliani R. Giugliani L, et al. Genet Mol Biol. 2019;42(1 suppl 1):305-311. doi: 10.1590/1678-4685-GMB-2018-0174. Epub 2019 Jun 3. Genet Mol Biol. 2019. PMID: 31170279 Free PMC article.
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
Giugliani L, Steiner CE, Kim CA, Lourenço CM, Santos MLSF, de Souza CFM, Brusius-Facchin AC, Baldo G, Riegel M, Giugliani R. Giugliani L, et al. JIMD Rep. 2019 Jul 17;49(1):96-106. doi: 10.1002/jmd2.12067. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497487 Free PMC article.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Among authors: giugliani l. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Giugliani R, Giugliani L, de Oliveira Poswar F, Donis KC, Corte AD, Schmidt M, Boado RJ, Nestrasil I, Nguyen C, Chen S, Pardridge WM. Giugliani R, et al. Among authors: giugliani l. Orphanet J Rare Dis. 2018 Jul 5;13(1):110. doi: 10.1186/s13023-018-0849-8. Orphanet J Rare Dis. 2018. PMID: 29976218 Free PMC article. Clinical Trial.
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 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.