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DIana Rojas Málaga
DIana Rojas Málaga
Medicine
Molecular biology
Genetics
Biology
Virology
9
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15
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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
2021
Genetics and Molecular Biology
Juliana Alves Josahkian
Franciele Barbosa Trapp
Maira Graeff Burin
Kristiane Michelin-Tirelli
Ana Paula Pereira Scholz de Magalhães
Fernanda Medeiros Sebastião
Fernanda Bender
Jurema Fatima de Mari
Ana Carolina Brusius-Facchin
Sandra Leistner-Segal
DIana Rojas Málaga
Roberto Giugliani
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Report of the first Brazilian patients with MPS IIID, with the observation of an unexpected increase of di-sulfated keratan sulfate
2021
Molecular Genetics and Metabolism
Francyne Kubaski
Diego Miguel
Carlos H.P. Grangeiro
DIana Rojas Málaga
Ana Carolina Brusius-Facchin
Franciele Barbosa Trapp
Fernanda Medeiros Sebastião
Maira Graeff Burin
Kristiane Michelin-Tirelli
Robert W. Mason
Shunji Tomatsu
Roberto Giugliani
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Quantification of glycosaminoglycans in mucopolysaccharidosis type IIID: The first Brazilian patient identified
2020
Molecular Genetics and Metabolism
Francyne Kubaski
Diego Miguel
Danilo Pereira
DIana Rojas Málaga
Ana Carolina Brusius-Facchin
Franciele Barbosa Trapp
Jurema Fatima de Mari
Maira Graeff Burin
Kristiane Michelin-Tirelli
Joanna G.C. Meira
Emília Katiane Embiruçu de Araújo Leão
Robert W. Mason
Shunji Tomatsu
Roberto Giugliani
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Padronização de um protocolo de extração orgânica de DNA de SIPF para uso na confirmação de casos alterados na triagem neonatal de doenças lisossômicas selecionadas
2020
Alice Brinckmann Oliveira Netto
DIana Rojas Málaga
Francyne Kubaski
Franciele Barbosa Trapp
Roberto Giugliani
Ana Carolina Brusius-Facchin
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Desenvolvimento de uma abordagem NGS para o diagnóstico genético-molecular das lipofuscinoses ceróides neuronais
2018
DIana Rojas Málaga
Ana Carolina Brusius-Facchin
Maria Luiza Saraiva Pereira
Roberto Giugliani
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