Hasil Pencarian - Ida Vanessa Doederlein Schwartz

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  1. 1
    Development of an inventory to assess perceived barriers related to PKU treatment

    Development of an inventory to assess perceived barriers related to PKU treatment oleh Katia Irie Teruya, Eduardo Remor, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2020-05-01
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  2. 2
    The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

    The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay? oleh Karina Colonetti, Luiz Fernando Roesch, Ida Vanessa Doederlein Schwartz

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  3. 3
    Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul

    Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul oleh Tássia Tonon, Elisa Sisti, Tatiéle Nalin, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2018-07-01
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  4. 4
    Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?

    Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common? oleh Giovana Regina Weber Hoss, Soraia Poloni, Henk J Blom, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2019-12-01
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  5. 5
    Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs

    Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs oleh Gerda Cristal Villalba Silva, Taciane Borsatto, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig

    Diterbitkan 2022-02-01
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  6. 6
    Editorial: Inborn errors of carbohydrate metabolism

    Editorial: Inborn errors of carbohydrate metabolism oleh Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz

    Diterbitkan 2024-06-01
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  7. 7
    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil oleh Jéssica Dick, Sandra Leistner-Segal, Filippo Pinto Vairo, Roberto Giugliani, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2016-05-01
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  8. 8
    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil oleh Jéssica Dick, Sandra Leistner-Segal, Filippo Pinto Vairo, Roberto Giugliani, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2016-05-01
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  9. 9
    In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts

    In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts oleh Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2023-12-01
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  10. 10
    Assessment of cellular cobalamin metabolism in Gaucher disease

    Assessment of cellular cobalamin metabolism in Gaucher disease oleh Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2020-01-01
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  11. 11
    Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil

    Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil oleh Ida Vanessa Doederlein Schwartz, Andrea Amaro Quesada, Erlane Marques Ribeiro, Ana Maria Martins, Daniel Reda Fenga Vilela, André Pessoa

    Diterbitkan 2023-07-01
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  12. 12
    Adherence to Treatment of Phenylketonuria

    Adherence to Treatment of Phenylketonuria oleh Tatiane Alves Vieira, Tatiéle Nalin, Bárbara Correa Krug, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2015-05-01
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  13. 13
    Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience

    Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience oleh Livia d’Avila Paskulin, Rodrigo Tzovenos Starosta, Filippo Pinto e Vairo, Bárbara C. Krug, Paulo Picon, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2022-05-01
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  14. 14
    Efficacy of speech therapy in post-intubation patients with oropharyngeal dysphagia: a randomized controlled trial

    Efficacy of speech therapy in post-intubation patients with oropharyngeal dysphagia: a randomized controlled trial oleh Giovana Sasso Turra, Ida Vanessa Doederlein Schwartz, Sheila Tamanini de Almeida, Chenia Caldeira Martinez, Maristela Bridi, Sérgio Saldanha Menna Barreto

    Diterbitkan 2021-04-01
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  15. 15
    Eficácia e segurança da terapia com idursulfase em pacientes com mucopolissacaridose tipo II, com e sem comparação com placebo: revisão sistemática e metanálise

    Eficácia e segurança da terapia com idursulfase em pacientes com mucopolissacaridose tipo II, com e sem comparação com placebo: revisão sistemática e metanálise oleh Taciane Alegra, Dauana Pitano Eizerik, Caio César Silva de Cerqueira, Tiago V. Pereira, Alícia Dorneles Dornelles, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2013-01-01
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  16. 16
    A terapia de reposição enzimática pode mudar a frequência de intervenções médicas na mucopolissacaridose tipo I? Um estudo retrospectivo e exploratório [Can enzyme replacement therapy change the frequency of medical interventions in mucopolysacchari...]

    A terapia de reposição enzimática pode mudar a frequência de intervenções médicas na mucopolissacaridose tipo I? Um estudo retrospectivo e exploratório [Can enzyme replacement ther... oleh Fernanda Hendges de Bitencourt, Mayna Yaçanã Borges de Avila, Monica Vinhas de Souza, Taiane Alves Vieira, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2014-04-01
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  17. 17
    Dificuldades alimentares em pacientes com Fenilcetonúria

    Dificuldades alimentares em pacientes com Fenilcetonúria oleh Alexia Diovana Fernandes da Rocha, Chenia Caldeira Martinez, Lilia Farret Refosco, Tássia Tonon, Ida Vanessa Doederlein Schwartz, Sheila Tamanini de Almeida

    Diterbitkan 2023-09-01
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  18. 18
    Hipoventilação relacionada ao sono de origem central secundária à deficiência de biotinidase: relato de caso

    Hipoventilação relacionada ao sono de origem central secundária à deficiência de biotinidase: relato de caso oleh Charles Marques Lourenço, Ida Vanessa Doederlein Schwartz, Taciane Borsatto, Marcela Almeida Lopes, Guilherme Andrade Pelissari, Carolina Vicentim de Moraes, Andressa Fernandes Silva

    Diterbitkan 2021-07-01
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  19. 19
    Homocysteine and methylmalonic acid in Phenylketonuria patients

    Homocysteine and methylmalonic acid in Phenylketonuria patients oleh Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2024-04-01
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  20. 20
    Cardiovascular findings in classic homocystinuria

    Cardiovascular findings in classic homocystinuria oleh Marco Antônio Baptista Kalil, Karina Carvalho Donis, Fabiano de Oliveira Poswar, Bruna Bento dos Santos, Ângela Barreto Santiago Santos, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2020-12-01
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