Hasil Pencarian - Fernanda Bender

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  1. 1
    COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

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

    Diterbitkan 2021-12-01
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  2. 2
    Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome

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

    Diterbitkan 2015-02-01
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  3. 3
    Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

    Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays oleh 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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  4. 4
    Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

    Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions oleh 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

    Diterbitkan 2021-01-01
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  5. 5
    O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil

    O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil oleh 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

    Diterbitkan 2023-01-01
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  6. 6
    Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

    Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil oleh 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

    Diterbitkan 2017-09-01
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  7. 7
    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

    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 oleh 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

    Diterbitkan 2023-10-01
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  8. 8
    Population medical genetics: translating science to the community

    Population medical genetics: translating science to the community oleh 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

    Diterbitkan 2019-04-01
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