Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II von Stephan, Bruno de Oliveira, Quaio, Caio Robledo, Spolador, Gustavo Marquezani, de Paula, Ana Carolina, Curiati, Marco Antônio, Martins, Ana Maria, Leal, Gabriela Nunes, Tenorio, Artur, Finzi, Simone, Chimelo, Flavia Teixeira, Matas, Carla Gentile, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae

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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report von Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D'Almeida, Vania, Martins, Ana Maria, Pesquero, Joao Bosco

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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review von Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de Franca B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecilia

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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum von Patrício, Francy Reis da Silva, Pereira, Vanessa Gonçalves, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, Martins, Ana Maria

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α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms von Marins, Maryana, Curiati, Marco Antonio, Gomes, Caio Perez, Martin, Renan Paulo, Nicolicht-Amorim, Priscila, Yamamoto, Joyce Umbelino da Silva, D’Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco

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Brain MRI findings in patients with mucopolysaccharidosis type VI (MPS VI) von Mendes, Carmen Silvia Curiati, Campos, Ana Eduarda Saraiva, Bacon, Milagros Natahly Gutarra, Rand, Maret Holanda, Curiati, Marco Antonio, Martins, Ana Maria

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General overview of urea cycle disorders (UCDs) in Brazil von 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

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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 von Curiati, Marco Antonio, Kyosen, Sandra Obikawa, Coelho, Erika Mitie Yamashiro, Chen, Kelin, Sakata, Edna Tiemi, Silva, Rosangela Maria, Martins, Ana Maria

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Clinical profile of mucopolysaccharidosis type I patients from a Brazilian reference center von Sobreira, Joselito, Curiati, Marco Antônio, Mendes, Carmen Silvia Curiati, Rand, Maret Holanda, Martins, Ana Maria

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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review von Perrone, Eduardo, Thiago R. Cavole, Oliveira, Manuella G., Virmond, Luiza Do A., Silva, Marina De França B., Soares, Maria De Fatima F., Iglesias, Simone Brasil De O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília

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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report von Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco

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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum von Curiati, Marco Antonio, Kyosen, Sandra Obikawa, Pereira, Vanessa Gonçalves, Patrício, Francy Reis da Silva, Martins, Ana Maria

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Unusual congenital malformation of the larynx von Silva, Renata Santos Bittencourt, Corvo, Marco Antonio dos Anjos, Curiati, Larissa Kallas, Garrafa, Renata Christofe, Eckley, Claudia Alessandra

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Malformação laríngea congênita incomum von Renata Santos Bittencourt Silva, Marco Antonio dos Anjos Corvo, Larissa Kallas Curiati, Renata Christofe Garrafa, Claudia Alessandra Eckley

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Unusual congenital malformation of the larynx von Silva, Renata Santos Bittencourt, Corvo, Marco Antonio dos Anjos, Curiati, Larissa Kallas, Garrafa, Renata Christofe, Eckley, Claudia Alessandra

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Malformação laríngea congênita incomum von Silva, Renata Santos Bittencourt, Corvo, Marco Antonio dos Anjos, Curiati, Larissa Kallas, Garrafa, Renata Christofe, Eckley, Claudia Alessandra

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