Showing 1 - 2 results of 2 for search 'Soraia Poloni', query time: 0.01s Refine Results
  1. 1
    A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report

    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 2024-12-01
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  2. 2
    The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria

    The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria by Ana Jaqueline Nunes, Bianca Fasolo Franceschetto, Lisiane da Gama, Soraia Poloni, Lilia Farret Refosco, Tassia Tonon, Vaneisse Monteiro, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, François Maillot, Ida Vanessa Doederlein Schwartz

    Published 2025-04-01
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