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

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

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

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

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

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

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

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Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing by Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner

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

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

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

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

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

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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... by Fernanda Hendges de Bitencourt, Mayna Yaçanã Borges de Avila, Monica Vinhas de Souza, Taiane Alves Vieira, Ida Vanessa Doederlein Schwartz

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

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

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

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

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Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients? by Karina Colonetti, Evelise Leis de Carvalho, Darlene Lopes Rangel, Paulo Marcos Pinto, Luiz Fernando Wurdig Roesch, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz

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The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients by Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Juliana Maria Fagundes Verch, Bruna Bento dos Santos, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz

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