Search Results - "Mara Marins, Maryana"

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    A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report by 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 (18-03-2020)
    “…Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S)…”
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    Journal Article
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    A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report by 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)
    “…RATIONALEMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme…”
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