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Aumento acentuado da leucina como fator de mau prognóstico na doença da urina de xarope de bordo - relato de caso by Bruna Duque de Almeida Braga, Gessianni Claire Alves de Souza, Filipe Marinho Pinheiro da Camara, Ana Cecília Menezes de Siqueira, Lucas Victor Alves
Published 2023-06-01
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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant by Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira, Camila Matuella, Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Fernando Kok, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig
Published 2021-05-01
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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study by Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz
Published 2023-01-01
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