SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey
Schwartz, Ida Vanessa Doederlein, Randon, Dévora Natalia, Monsores, Natan, Moura de Souza, Carolina Fischinger, Horovitz, Dafne Dain Gandelman, Wilke, Matheus Vernet Machado Bressan, Brunoni, Decio
Published in American Journal of Medical Genetics Part C: Seminars in Medical Genetics (01.09.2021)
Published in American Journal of Medical Genetics Part C: Seminars in Medical Genetics (01.09.2021)
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Hepatic glycogen storage diseases are associated to microbial dysbiosis
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
Published in PloS one (02.04.2019)
Published in PloS one (02.04.2019)
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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 follow-up
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
Published in Orphanet journal of rare diseases (07.01.2021)
Published in Orphanet journal of rare diseases (07.01.2021)
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Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing
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
Published in PloS one (23.06.2016)
Published in PloS one (23.06.2016)
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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis
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
Published in PloS one (31.08.2017)
Published in PloS one (31.08.2017)
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Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases
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
Published in Nutrients (27.08.2021)
Published in Nutrients (27.08.2021)
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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
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
Published in Jornal de pediatria (01.11.2020)
Published in Jornal de pediatria (01.11.2020)
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Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?
Colonetti, Karina, de Carvalho, Evelise Leis, Rangel, Darlene Lopes, Pinto, Paulo Marcos, Roesch, Luiz Fernando Wurdig, Pinheiro, Franciele Cabral, Schwartz, Ida Vanessa Doederlein
Published in Metabolites (01.09.2022)
Published in Metabolites (01.09.2022)
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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
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
Published in Genetics and molecular biology (01.01.2021)
Published in Genetics and molecular biology (01.01.2021)
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Cardiovascular findings in classic homocystinuria
Kalil, Marco Antônio Baptista, Donis, Karina Carvalho, Poswar, Fabiano de Oliveira, dos Santos, Bruna Bento, Santos, Ângela Barreto Santiago, Schwartz, Ida Vanessa Doederlein
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases
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
Published in Genetics and molecular biology (2019)
Published in Genetics and molecular biology (2019)
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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
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
Published in Reproductive and developmental medicine (01.06.2022)
Published in Reproductive and developmental medicine (01.06.2022)
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The rs2229611 (G6PC:c.23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients
Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Journal Article
Liver involvement in patients with Gaucher disease types I and III
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
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients
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
Published in Molecular genetics & genomic medicine (01.11.2019)
Published in Molecular genetics & genomic medicine (01.11.2019)
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Molecular basis of various forms of maple syrup urine disease in Chilean patients
Campanholi, Diana Ruffato Resende, Margutti, Ana Vitoria Barban, Silva, Wilson A., Garcia, Daniel F., Molfetta, Greice A., Marques, Adriana A., Schwartz, Ida Vanessa Döederlein, Cornejo, V., Hamilton, Valerie, Castro, Gabriela, Sperb‐Ludwig, Fernanda, Borges, Ester S., Camelo, José S.
Published in Molecular genetics & genomic medicine (01.05.2021)
Published in Molecular genetics & genomic medicine (01.05.2021)
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Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida Vanessa Doederlein
Published in Molecular genetics and metabolism reports (01.12.2019)
Published in Molecular genetics and metabolism reports (01.12.2019)
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Experimental evidence of oxidative stress in plasma of homocystinuric patients: A possible role for homocysteine
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
Published in Molecular genetics and metabolism (01.09.2011)
Published in Molecular genetics and metabolism (01.09.2011)
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