Analysis of anthropometric measurements and dietary intake in patients undergoing a multi-professional program osteoarthritis treatment (parqve – project arhtritis recovering quali... von Brito, N.L, Rezende, M.U, Campos, G.C, Hissadomi, M.I, Pasqualim, T, Pailo, A.F, Fruchi, R, Camargo, O.P

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Worldwide distribution of common IDUA pathogenic variants von Poletto, E., Pasqualim, G., Giugliani, R., Matte, U., Baldo, G.

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes von Borges, Pâmella, Pasqualim, Gabriela, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula

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Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants von Borges, Pâmella, Pasqualim, Gabriela, Matte, Ursula

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Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I von Pasqualim, Gabriela, Baldo, Guilherme, de Carvalho, Talita Giacomet, Tavares, Angela Maria Vicente, Giugliani, Roberto, Matte, Ursula

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Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers von Gong, Tingting, Jaratlerdsiri, Weerachai, Jiang, Jue, Willet, Cali, Chew, Tracy, Patrick, Sean M, Lyons, Ruth J, Haynes, Anne-Maree, Pasqualim, Gabriela, Brum, Ilma Simoni, Stricker, Phillip D, Mutambirwa, Shingai B A, Sadsad, Rosemarie, Papenfuss, Anthony T, Bornman, Riana M S, Chan, Eva K F, Hayes, Vanessa M

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Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases von Poletto, Edina, Pasqualim, Gabriela, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

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African-specific molecular taxonomy of prostate cancer von Jaratlerdsiri, Weerachai, Jiang, Jue, Gong, Tingting, Patrick, Sean M., Willet, Cali, Chew, Tracy, Lyons, Ruth J., Haynes, Anne-Maree, Pasqualim, Gabriela, Louw, Melanie, Kench, James G., Campbell, Raymond, Horvath, Lisa G., Chan, Eva K. F., Wedge, David C., Sadsad, Rosemarie, Brum, Ilma Simoni, Mutambirwa, Shingai B. A., Stricker, Phillip D., Bornman, M. S. Riana, Hayes, Vanessa M.

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In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system von Schuh, Roselena Silvestri, Poletto, Édina, Pasqualim, Gabriela, Tavares, Angela Maria Vicente, Meyer, Fabíola Shons, Gonzalez, Esteban Alberto, Giugliani, Roberto, Matte, Ursula, Teixeira, Helder Ferreira, Baldo, Guilherme

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Simple and efficient screening of patients with Fabry disease with high resolution melting von Pasqualim, Gabriela, dos Santos, Bruna Almeida, Giugliani, Roberto, Matte, Ursula

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CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts von de Carvalho, Talita Giacomet, Schuh, Roselena, Pasqualim, Gabriela, Pellenz, Felipe Matheus, Filippi-Chiela, Eduardo Cremonese, Giugliani, Roberto, Baldo, Guilherme, Matte, Ursula

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Geographic distribution and possible origins of most frequent mutations observed in mucopolysaccharidosis type I patients von Poletto, Edina, Pasqualim, Gabriela, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders von Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, Souza, Carolina F M de, Schwartz, Ida V D, Matte, Ursula, Giugliani, Roberto

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Estimated birth prevalence of mucopolysaccharidoses in Brazil von Federhen, Andressa, Pasqualim, Gabriela, Freitas, Talita Freitas, Gonzalez, Esteban Alberto, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto

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Lysosome: The Story Beyond the Storage von Matte, Ursula, Pasqualim, Gabriela

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Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart von Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, Sandra

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Fc Gamma Receptor IIA (CD32A) R131 Polymorphism as a Marker of Genetic Susceptibility to Sepsis von Beppler, Jaqueline, Koehler-Santos, Patrícia, Pasqualim, Gabriela, Matte, Ursula, Alho, Clarice Sampaio, Dias, Fernando Suparregui, Kowalski, Thayne Woycinck, Velasco, Irineu Tadeu, Monteiro, Renato C., Pinheiro da Silva, Fabiano

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Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy von Schuh, Roselena Silvestri, Bidone, Juliana, Poletto, Edina, Pinheiro, Camila Vieira, Pasqualim, Gabriela, de Carvalho, Talita Giacomet, Farinon, Mirian, da Silva Diel, Dirnete, Xavier, Ricardo Machado, Baldo, Guilherme, Matte, Ursula, Teixeira, Helder Ferreira

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Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice von Bidone, Juliana, Schuh, Roselena Silvestri, Farinon, Mirian, Poletto, Édina, Pasqualim, Gabriela, de Oliveira, Patrícia Gnieslaw, Fraga, Michelle, Xavier, Ricardo Machado, Baldo, Guilherme, Teixeira, Helder Ferreira, Matte, Ursula

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Detection of SARS-CoV-2 variants related mutations in wastewater using RT-qPCR and variant-specific probes in Porto Alegre, Southern Brazil von Mangini, Arthur Tonietto, Prandi, Bruno Aschidamini, Violet-Lozano, Lina, Cunha, Pâmela Ferreira, Jarenkow, Andre, Campos, Aline Alves Scarpellini, Pasqualim, Gabriela, Hartke, Sara, Brum da Silva, Ilma Simoni, Campos, Fabrício Souza, Roehe, Paulo Michel, Franco, Ana Cláudia

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