Hepatic glycogen storage diseases are associated to microbial dysbiosis von Colonetti, Karina, Bento Dos Santos, Bruna, Nalin, Tatiéle, Moura de Souza, Carolina Fischinger, Triplett, Eric W, Dobbler, Priscila Thiago, Schwartz, Ida Vanessa Doederlein, Roesch, Luiz Fernando Wurdig

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Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing von Pinheiro de Oliveira, Felipe, Mendes, Roberta Hack, Dobbler, Priscila Thiago, Mai, Volker, Pylro, Victor Salter, Waugh, Sheldon G, Vairo, Filippo, Refosco, Lilia Farret, Roesch, Luiz Fernando Würdig, Schwartz, Ida Vanessa Doederlein

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Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo... von Starosta, Rodrigo Tzovenos, Boyer, Suzanne, Tahata, Shawn, Raymond, Kimiyo, Lee, Hee Eun, Wolfe, Lynne A, Lam, Christina, Edmondson, Andrew C, Schwartz, Ida Vanessa Doederlein, Morava, Eva

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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis von Dornelles, Alícia Dorneles, Artigalás, Osvaldo, da Silva, André Anjos, Ardila, Dora Lucia Vallejo, Alegra, Taciane, Pereira, Tiago Veiga, Vairo, Filippo Pinto E, Schwartz, Ida Vanessa Doederlein

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The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay? von Colonetti, Karina, Roesch, Luiz Fernando, Schwartz, Ida Vanessa Doederlein

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Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases von Jacoby, Jésica Tamara, Bento dos Santos, Bruna, Nalin, Tatiele, Colonetti, Karina, Farret Refosco, Lília, F. M. de Souza, Carolina, Spritzer, Poli Mara, Poloni, Soraia, Hack-Mendes, Roberta, Schwartz, Ida Vanessa Doederlein

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Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center von Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, de Bitencourt, Fernanda Hendges, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein

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Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients? von Colonetti, Karina, de Carvalho, Evelise Leis, Rangel, Darlene Lopes, Pinto, Paulo Marcos, Roesch, Luiz Fernando Wurdig, Pinheiro, Franciele Cabral, Schwartz, Ida Vanessa Doederlein

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Development of an inventory to assess perceived barriers related to PKU treatment von Teruya, Katia Irie, Remor, Eduardo, Schwartz, Ida Vanessa Doederlein

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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant von Pinheiro, Franciele Cabral, Ligabue-Braun, Rodrigo, Siqueira, Ana Cecília Menezes de, Matuella, Camila, Souza, Carolina Fischinger Moura de, Monteiro, Fabíola Paoli, Kok, Fernando, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda

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Cardiovascular findings in classic homocystinuria von Kalil, Marco Antônio Baptista, Donis, Karina Carvalho, Poswar, Fabiano de Oliveira, dos Santos, Bruna Bento, Santos, Ângela Barreto Santiago, Schwartz, Ida Vanessa Doederlein

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Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases von Vieira, Taiane Alves, Trapp, Franciele Barbosa, Souza, Carolina Fischinger Moura de, Faccini, Lavínia Schuler, Jardim, Laura Bannach, Schwartz, Ida Vanessa Doederlein, Riegel, Mariluce, Vargas, Carmen Regla, Burin, Maira Graeff, Leistner-Segal, Sandra, Ashton-Prolla, Patrícia, Giugliani, Roberto

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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 von dos Santos, Mariana Lopes, Randon, Dévora Natalia, de Bitencourt, Fernanda Hendges, Sperb-Ludwig, Fernanda, Vianna, Fernanda Sales Luiz, Vargas, Carmen Regla, Sitta, Angela, Schwartz, Ida Vanessa Doederlein

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The rs2229611 (G6PC:c.23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients von Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein

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Liver involvement in patients with Gaucher disease types I and III von Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Dornelles, Alícia Dorneles, Basgalupp, Suélen Porto, Siebert, Marina, Pedroso, Maria Lúcia Alves, Cerski, Carlos Thadeu Schmidt, Álvares-da-Silva, Mário Reis, Schwartz, Ida Vanessa Doederlein

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Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients von Teruya, Katia Irie, Remor, Eduardo, Schwartz, Ida Vanessa Doederlein

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What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review von Remor, Eduardo, Gabe, Kamilla Mueller, Teruya, Katia Irie, Doederlein Schwartz, Ida Vanessa

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

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KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword von Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Schwartz, Ida Vanessa Doederlein

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Experimental evidence of oxidative stress in plasma of homocystinuric patients: A possible role for homocysteine von Vanzin, Camila Simioni, Biancini, Giovana Brondani, Sitta, Angela, Wayhs, Carlos Alberto Yasin, Pereira, Izabela Netto, Rockenbach, Francieli, Garcia, Solange Cristina, Wyse, Angela Terezinha de Souza, Schwartz, Ida Vanessa Doederlein, Wajner, Moacir, Vargas, Carmen Regla

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