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    Dysmorphic features in a newborn with neurological, liver and kidney involvement by defective peroxisomal biogenesis. Case report

    Dysmorphic features in a newborn with neurological, liver and kidney involvement by defective peroxisomal biogenesis. Case report by Yolanda Cifuentes, Clara Arteaga

    Published 2020-01-01
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  2. 2
    Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia

    Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia by Jorge Luis Granadillo De Luque, Manuel Luna, Leonardo Hernández-Reina, Clara Arteaga-Diaz, Juan Manuel Arteaga-Díaz

    Published 2016-01-01
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