Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Authors: 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

Source: In Clinics January-December 2022 77

Clinical profile of mucopolysaccharidosis type I patients from a Brazilian reference center

Authors: Sobreira, Joselito, Curiati, Marco Antônio, Mendes, Carmen Silvia Curiati, Rand, Maret Holanda, Martins, Ana Maria

Source: Molecular genetics and metabolism. 126(2):S136-S136

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100075835457.0x000001&indx=1&recIds=ETOCvdc_100075835457.0x000001

Brain MRI findings in patients with mucopolysaccharidosis type VI (MPS VI)

Authors: Mendes, Carmen Silvia Curiati, Campos, Ana Eduarda Saraiva, Bacon, Milagros Natahly Gutarra, Rand, Maret Holanda, Curiati, Marco Antonio, Martins, Ana Maria

Source: In Molecular Genetics and Metabolism February 2020 129(2):S44-S45

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

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

Source: In Molecular Genetics and Metabolism January-February 2017 120(1-2):S38-S39

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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Authors: 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

Source: Genetics and Molecular Biology. January 2020 43(2)

Subject Terms: C12orf65, Leigh syndrome, COXPD7, mitochondrial, oxidative phosphorylation

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400109