Influência do Polimorfismo de Inserção/Deleção do Gene da Enzima Conversora de Angiotensina na Adiposidade e na Função Cardíaca em Pacientes com Insuficiência Cardíaca by Marla Darlene Machado Vale, Édina Caroline Ternus Ribeiro, Ingrid da Silveira Knobloch, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig, Gabriela Corrêa Souza

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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

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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

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Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. by Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz

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