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1. COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
Sebastião, Fernanda Medeiros ORCID ; Michelin-Tirelli, Kristiane ORCID ; Bender, Fernanda ORCID ; Lopes, Franciele Fátima ORCID ; Moraes, Inamara ORCID ; Kubaski, Francyne ORCID ; Giugliani, Roberto ORCID ; Burin, Maira ORCID .
Genetics and Molecular Biology 2022, Volume 45 N. 1 elocation e20210253
https://doi.org/10.1590/1678-4685-gmb-2021-0253 1 downloads
2. Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Josahkian, Juliana Alves ORCID ; Trapp, Franciele Barbosa ORCID ; Burin, Maira Graeff ORCID ; Michelin-Tirelli, Kristiane ORCID ; Magalhães, Ana Paula Pereira Scholz de ORCID ; Sebastião, Fernanda Medeiros ORCID ; Bender, Fernanda ORCID ; Mari, Jurema Fátima De ORCID ; Brusius-Facchin, Ana Carolina ORCID ; Leistner-Segal, Sandra ORCID ; Málaga, Diana Rojas ORCID ; Giugliani, Roberto ORCID .
Genetics and Molecular Biology 2021, Volume 44 N. 1 elocation e20200138
https://doi.org/10.1590/1678-4685-gmb-2020-0138 934 downloads
3. Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
Bender, Fernanda ORCID ; Burin, Maira G. ORCID ; Tirelli, Kristiane M. ORCID ; Medeiros, Fernanda ORCID ; Bitencourt, Fernanda Hendges de ORCID ; Civallero, Gabriel ORCID ; Kubaski, Francyne ORCID ; Bravo, Heydy ORCID ; Daher, Antoine ORCID ; Carnier, Vanessa ORCID ; Franco, José F. S. ORCID ; Giugliani, Roberto ORCID .
Genetics and Molecular Biology 2020, Volume 43 N. 2 elocation e20180334
https://doi.org/10.1590/1678-4685-gmb-2018-0334 922 downloads
4. Population medical genetics: translating science to the community
Giugliani, Roberto ORCID ; Bender, Fernanda ORCID ; Couto, Rowena ORCID ; Bochernitsan, Aline ORCID ; Brusius-Facchin, Ana Carolina ORCID ; Burin, Maira ORCID ; Amorim, Tatiana ORCID ; Acosta, Angelina Xavier ORCID ; Purificação, Antônio ORCID ; Leistner-Segal, Sandra ORCID ; Saraiva-Pereira, Maria Luiza ORCID ; Jardim, Laura Bannach ORCID ; Matte, Ursula ORCID ; Riegel, Mariluce ORCID ; Cardoso-dos-Santos, Augusto César ORCID ; Rodrigues, Graziella ORCID ; Oliveira, Marcelo Zagonel de ORCID ; Tagliani-Ribeiro, Alice ORCID ; Heck, Selia ORCID ; Dresch, Vanusa ORCID ; Schuler-Faccini, Lavínia ORCID ; Kubaski, Francyne ORCID .
Genetics and Molecular Biology 2019, Volume 42 N. 1 Pages 312 - 320
https://doi.org/10.1590/1678-4685-gmb-2018-0096 971 downloads
5. Valores de referencia de β-glucosidasa y quitotriosidasa en gotas de sangre seca de lactantes venezolanos
Miranda, Luís E ORCID ; Chacín, José A ORCID ; Chávez, Carlos J ORCID ; Méndez, Karile ORCID ; Bracho, Ana ORCID ; Solís Añez, Ernesto ORCID ; Bender, Fernanda ORCID ; Graeft Burin, Maira ORCID ; Giugliani, Roberto ORCID .
Archivos Venezolanos de Puericultura y Pediatría dec 2016, Volume 79 N. 4 Pages 127 - 131
211 downloads
6. Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome
Baldo, Guilherme ORCID ; Poswar, Fabiano ORCID ; Federhen, Andressa ORCID ; Bittar, Camila ORCID ; Gus, Rejane ORCID ; Bender, Fernanda ORCID ; Giugliani, Roberto ORCID .
Journal of Inborn Errors of Metabolism and Screening 2015, Volume 3 elocation e140010
https://doi.org/10.1177/2326409814567741 580 downloads
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