Hasil Pencarian - Ida Vanessa D Schwartz

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  1. 1
    Avaliação da motricidade orofacial em pacientes com mucopolissacaridose: um estudo transversal Evaluation of orofacial motricity in patients with mucopolysaccharidosis: a cross-sectional study

    Avaliação da motricidade orofacial em pacientes com mucopolissacaridose: um estudo transversal Evaluation of orofacial motricity in patients with mucopolysaccharidosis: a cross-sec... oleh Giovana S. Turra, Ida Vanessa D. Schwartz

    Diterbitkan 2009-06-01
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  2. 2
    Consequências da judicialização das políticas de saúde: custos de medicamentos para as mucopolissacaridoses Consequences of the judicialization of health policies: the cost of medicines for mucopolysaccharidosis

    Consequências da judicialização das políticas de saúde: custos de medicamentos para as mucopolissacaridoses Consequences of the judicialization of health policies: the cost of medi... oleh Debora Diniz, Marcelo Medeiros, Ida Vanessa D. Schwartz

    Diterbitkan 2012-03-01
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  3. 3
    Assessment of quality of life in Gaucher disease: A methodological approach

    Assessment of quality of life in Gaucher disease: A methodological approach oleh Vitória S. Zizemer, Tatiele Nalin, Ida Vanessa D. Schwartz, Ana Paula Vanz

    Diterbitkan 2021-01-01
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  4. 4
    Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

    Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing oleh Nataniel Floriano Ludwig, Fernanda Sperb-Ludwig, Renata Voltolini Velho, Ida Vanessa D. Schwartz

    Diterbitkan 2017-06-01
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  5. 5
    Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

    Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey oleh Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan

    Diterbitkan 2018-03-01
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  6. 6
    A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

    A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity oleh Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz

    Diterbitkan 2012-01-01
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  7. 7
    The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

    The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease oleh Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, Ida Vanessa D. Schwartz

    Diterbitkan 2016-03-01
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  8. 8
    Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase

    Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase oleh Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Ida Vanessa D Schwartz

    Diterbitkan 2011-06-01
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  9. 9
    Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

    Analysis of body composition and nutritional status in Brazilian phenylketonuria patients oleh Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, Ida Vanessa D. Schwartz

    Diterbitkan 2016-03-01
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  10. 10
    Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis.

    Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis. oleh Brígida Dias Fernandes, Bárbara Corrêa Krug, Fernanda D'Athayde Rodrigues, Hérica Núbia Cardoso Cirilo, Stéfani Sousa Borges, Ida Vanessa D Schwartz, Livia Fernandes Probst, Ivan Zimmermann

    Diterbitkan 2024-01-01
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  11. 11
    Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis

    Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis oleh Brígida Dias Fernandes, Bárbara Corrêa Krug, Fernanda D’Athayde Rodrigues, Hérica Núbia Cardoso Cirilo, Stéfani Sousa Borges, Ida Vanessa D. Schwartz, Livia Fernandes Probst, Ivan Zimmermann

    Diterbitkan 2024-01-01
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  12. 12
    Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

    Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appro... oleh Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla

    Diterbitkan 2018-01-01
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  13. 13
    BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

    BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for t... oleh Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla

    Diterbitkan 2017-01-01
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  14. 14
    Maple syrup urine disease in Brazil: a panorama of the last two decades

    Maple syrup urine disease in Brazil: a panorama of the last two decades oleh Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza

    Diterbitkan 2015-06-01
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  15. 15
    Maple syrup urine disease in Brazil: a panorama of the last two decades

    Maple syrup urine disease in Brazil: a panorama of the last two decades oleh Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza

    Diterbitkan 2015-05-01
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  16. 16
    Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™

    Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™ oleh Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix

    Diterbitkan 2018-03-01
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  17. 17
    Maple syrup urine disease in Brazil: a panorama of the last two decades

    Maple syrup urine disease in Brazil: a panorama of the last two decades oleh Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, Carolina Fischinger Moura de Souza

    Diterbitkan 2015-05-01
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  18. 18
    A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF

    A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Bio... oleh Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano O. Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D. Schwartz

    Diterbitkan 2024-03-01
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  19. 19
    Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials

    Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials oleh Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen, Ari Zimran

    Diterbitkan 2022-01-01
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