Hakutulokset - Fernanda Bender

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil Tekijä Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin

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VALORES DE REFERENCIA DE B-GLUCOSIDASA Y QUITOTRIOSIDASA EN GOTAS DE SANGRE SECA DE LACTANTES VENEZOLANOS. Tekijä Luís E. Miranda, José A. Chacín, Carlos J. Chávez, Karile Méndez, Ana Bracho, Ernesto Solís Añez, Fernanda Bender, Maira Graeft Burin, Roberto Giugliani

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Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome Tekijä Guilherme Baldo PhD, Fabiano Poswar MD, Andressa Federhen MSc, Camila Bittar MD, Rejane Gus PhD, Fernanda Bender MSc, Roberto Giugliani MD, PhD

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Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays Tekijä Fernanda Bender, Maira G. Burin, Kristiane M. Tirelli, Fernanda Medeiros, Fernanda Hendges de Bitencourt, Gabriel Civallero, Francyne Kubaski, Heydy Bravo, Antoine Daher, Vanessa Carnier, José F. S. Franco, Roberto Giugliani

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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions Tekijä Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani

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O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil Tekijä Alice Brinckmann Oliveira Netto, Ana Carolina Brusius Facchin, Julia Lemos, Fernanda Bender Pasetto, Paloma Wiest, Vivian Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda Bittar, Francisco Forestiero, Cristina Wang, Janaina Martins de Lana, Marcondes Cavalcante Franca, Jr, Roberto Giugliani

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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil Tekijä Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani

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Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF Tekijä Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani, Ida Vanessa Doederlein Schwartz

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Population medical genetics: translating science to the community Tekijä Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski

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Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network Tekijä Yorran Hardman Araújo Montenegro, Maria Fernanda Antero Alves, Simone Silva dos Santos-Lopes, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Ana Carolina Brusius-Facchin, Fernanda Bender-Pasetto, Kristiane Michelin-Tirelli, Fernanda Medeiros Sebastião, Franciele Barbosa Trapp, Erlane Marques Ribeiro, Paula Frassinetti Vasconcelos de Medeiros, Chong Ae Kim, Emilia Katiane Embiraçu, Mariluce Riegel-Giugliani, Guilherme Baldo, Roberto Giugliani

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Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil Tekijä Alice Brinckmann Oliveira Netto, Marina Hentschke-Lopes, Fernanda Bender Pasetto, Thaís de Almeida Rocha dos Anjos, Gleice Santos de Andrade, Maria Inês Andrade Sousa, Inamara da Silva Moraes, Franciele Barbosa Trapp, Ana Carolina Brusius-Facchin, Jonas Alex Morales Saute, Michele Michelin Becker, Vivian de Lima Spode Coutinho, Santiago Vilella-Arias, Vitor Ponci, Marcondes Cavalcante França Junior, Marcial Francis Galera, Tatiana Amorim, Roberto Giugliani

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