Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
Perrone, Eduardo, Cavole, Thiago R., 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
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Agalsidase beta and infusion-related reactions: Findings in Brazilian patients
Curiati, Marco A., Mendes, Carmen Silvia C., Aranda, Carolina S., Maia, Murilo, Ensina, Luis Felipe, Solé, Dirceu, Martins, Ana Maria
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Cholesteryl ester storage disease: report of three cases
Curiati, Marco A., Kyosen, Sandra O., Mendes, Carmen Silvia C., Aranda, Carolina S., Jimenez, Debora Adriana P., Barata, Mariangela Cristina C., Patricio, Francy S., Martins, Ana Maria
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Journal Article
Enzyme replacement therapy for mucopolysaccharidosis type II: Experience from a Brazilian reference center
Curiati, Marco A., Mendes, Carmen Silvia C., Rand, Maret H., Canossa, Sueli, Goncalves, Cintia M., Silva, Rosangela M., Silva, José, Oliveira, Renata B., Kyosen, Sandra O., Aranda, Carolina S., Martins, Ana Maria
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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