Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II
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Published in Clinics (São Paulo, Brazil) (01.01.2022)
Published in Clinics (São Paulo, Brazil) (01.01.2022)
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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
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Published in Frontiers in genetics (18.03.2020)
Published in Frontiers in genetics (18.03.2020)
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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
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Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Brain MRI findings in patients with mucopolysaccharidosis type VI (MPS VI)
Mendes, Carmen Silvia Curiati, Campos, Ana Eduarda Saraiva, Bacon, Milagros Natahly Gutarra, Rand, Maret Holanda, Curiati, Marco Antonio, Martins, Ana Maria
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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General overview of urea cycle disorders (UCDs) in Brazil
Schwartz, Ida Vanessa Doederlein, dos Santos, Mariana Lopes, Fink, Isabela Alicia, de Bitencourt, Fernanda Fernanda Hendges, Sperb-Ludwig, Fernanda, Refosco, Lilia Farret, de Souza, Carolina Fischinger Moura, Poswar, Fabiano Oliveira, Vieira, Marta Wey, Moretzsohn, Monica, Curiati, Marco Antonio, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida, Menezes, Ana Cecília, da Silva Baptista Arpini, Luana, Heredia, Romina Soledad, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, de Rosso Giuliani, Liane, Adjuto, Giselle Maria Araujo Felix, de Distúrbios do Ciclo da Uréia, Grupo Brasileiro
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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The impact of the disease burden on the quality of life of patients with lysosomal diseases: preliminary data of adult patients under enzyme replacement therapy
Curiati, Marco Antonio, Kyosen, Sandra Obikawa, Coelho, Erika Mitie Yamashiro, Chen, Kelin, Sakata, Edna Tiemi, Silva, Rosangela Maria, Martins, Ana Maria
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco
Published in Frontiers in genetics (01.01.2019)
Published in Frontiers in genetics (01.01.2019)
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