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AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet by Bianca Fasolo Franceschetto, Júlia Montim Orlandi, Wanessa de Carvalho Rosa, Mariana Lima Scortegagna, Lilia Farret, Ida V. D. Schwartz, Soraia Poloni
Published 2024-10-01Get full text
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A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report by Lívia Maria Ferreira Sobrinho, Thiago Oliveira Silva, Lilia Farret Refosco, Soraia Poloni, Fabiano Oliveira Poswar, Carolina Fischinger Moura de Souza, Fernanda Sperb-Ludwig, Ida Vanessa Doederlein Schwartz
Published 2024-12-01Get full text
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