檢索結果 - Fernanda Sperb-Ludwig

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals 由 RENATA V. VELHO, FERNANDA SPERB-LUDWIG, IDA V.D. SCHWARTZ

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In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts 由 Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz

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Influência do Polimorfismo de Inserção/Deleção do Gene da Enzima Conversora de Angiotensina na Adiposidade e na Função Cardíaca em Pacientes com Insuficiência Cardíaca 由 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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Homocysteine and methylmalonic acid in Phenylketonuria patients 由 Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz

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Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study 由 Tatiéle Nalin, Fernanda Sperb-Ludwig, Marina Siebert, Gustavo Mottin Rizowy, David A. Weinstein, Terry G. J. Derks, Carolina F. M. de Souza, Ida V. D. Schwartz

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A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report 由 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 由 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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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant 由 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

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Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil 由 Mariana Lopes dos Santos, Dévora Natalia Randon, Fernanda Hendges de Bitencourt, Fernanda Sperb-Ludwig, Fernanda Sales Luiz Vianna, Carmen Regla Vargas, Angela Sitta, Ida Vanessa Doederlein Schwartz, Yong-Qing Zhu

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Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients 由 Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz

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Potential use of other starch sources in the treatment of glycogen storage disease type Ia – an in vitro study 由 Vaneisse Monteiro, Karina Colonetti, Carlos Henrique Pagno, Helena OS Schmidt, Fernanda Sperb-Ludwig, Bibiana Mello de Oliveira, Soraia Poloni, Alessandro O Rios, Carolina F Moura de Souza, Ida Vanessa Doederlein Schwartz

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Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 由 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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