Epidemiological aspects of hereditary fructose intolerance: A database study
Pinheiro, Franciele C., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D.
Published in Human mutation (01.12.2021)
Published in Human mutation (01.12.2021)
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Journal Article
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations
Velho, Renata Voltolini, Ludwig, Nataniel Floriano, Alegra, Taciane, Sperb-Ludwig, Fernanda, Guarany, Nicole Ruas, Matte, Ursula, Schwartz, Ida V D
Published in Journal of human genetics (01.06.2016)
Published in Journal of human genetics (01.06.2016)
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Journal Article
Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study
Monteiro, Vaneisse, Colonetti, Karina, Pagno, Carlos Henrique, Schmidt, Helena Os, Sperb-Ludwig, Fernanda, Oliveira, Bibiana Mello de, Poloni, Soraia, Rios, Alessandro O, de Souza, Carolina F Moura, Schwartz, Ida Vanessa Doederlein
Published in Orphanet journal of rare diseases (30.07.2024)
Published in Orphanet journal of rare diseases (30.07.2024)
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Journal Article
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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Journal Article
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
Sperb-Ludwig, Fernanda, Ludwig, Nataniel Floriano, Rizowy, Gustavo Mottin, Velho, Renata Voltolini, Schwartz, Ida Vanessa Doederlein
Published in Genetics and molecular biology (01.01.2023)
Published in Genetics and molecular biology (01.01.2023)
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Journal Article
CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients
Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.
Published in Molecular genetics & genomic medicine (01.03.2018)
Published in Molecular genetics & genomic medicine (01.03.2018)
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Journal Article
Homocysteine and methylmalonic acid in Phenylketonuria patients
Hoss, Giovana Regina Weber, Sperb-Ludwig, Fernanda, Tonon, Tássia, Poloni, Soraia, Behringer, Sidney, Blom, Henk J, Maillot, François, Schwartz, Ida Vanessa Doederlein
Published in Genetics and molecular biology (01.01.2023)
Published in Genetics and molecular biology (01.01.2023)
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Journal Article
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing
de Marchi, Rafael, Nalin, Tatiele, Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Schwartz, Ida Vanessa Doederlein, Steiner, Carlos Eduardo
Published in Genes (15.12.2023)
Published in Genes (15.12.2023)
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Journal Article
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon
Published in Orphanet journal of rare diseases (01.11.2020)
Published in Orphanet journal of rare diseases (01.11.2020)
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Journal Article
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia
Monteiro, Vaneisse C L, de Oliveira, Bibiana M, Dos Santos, Bruna B, Sperb-Ludwig, Fernanda, Refosco, Lilia F, Nalin, Tatiele, Derks, Terry G J, Moura de Souza, Carolina F, Schwartz, Ida V D
Published in Orphanet journal of rare diseases (03.06.2021)
Published in Orphanet journal of rare diseases (03.06.2021)
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Journal Article
Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study
Nalin, Tatiéle, Sperb-Ludwig, Fernanda, Siebert, Marina, Rizowy, Gustavo Mottin, Weinstein, David A., Derks, Terry G. J., Souza, Carolina F. M. de, Schwartz, Ida V. D.
Published in Journal of inborn errors of metabolism and screening (2024)
Published in Journal of inborn errors of metabolism and screening (2024)
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Journal Article
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E, S Carvalho, Maria R, S Fonseca, Pablo A, S Camelo, Jr, José, M Ribeiro, Erlane, F V de Medeiros, Paula, M Lourenço, Charles, F M de Souza, Carolina, Boy, Raquel, Félix, Têmis M, M Bittar, Camila, L C Pinto, Louise, C Neto, Eurico, J Blom, Henk, D Schwartz, Ida V
Published in PloS one (12.05.2017)
Published in PloS one (12.05.2017)
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Journal Article
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
Westermann, Lena Marie, Fleischhauer, Lutz, Vogel, Jonas, Jenei-Lanzl, Zsuzsa, Ludwig, Nataniel Floriano, Schau, Lynn, Morellini, Fabio, Baranowsky, Anke, Yorgan, Timur A, Di Lorenzo, Giorgia, Schweizer, Michaela, de Souza Pinheiro, Bruna, Guarany, Nicole Ruas, Sperb-Ludwig, Fernanda, Visioli, Fernanda, Oliveira Silva, Thiago, Soul, Jamie, Hendrickx, Gretl, Wiegert, J Simon, Schwartz, Ida V D, Clausen-Schaumann, Hauke, Zaucke, Frank, Schinke, Thorsten, Pohl, Sandra, Danyukova, Tatyana
Published in Disease models & mechanisms (01.11.2020)
Published in Disease models & mechanisms (01.11.2020)
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Journal Article
KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword
Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Schwartz, Ida Vanessa Doederlein
Published in Cellular and molecular life sciences : CMLS (01.09.2020)
Published in Cellular and molecular life sciences : CMLS (01.09.2020)
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Journal Article
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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Journal Article
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients
Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Tonon, Tássia, de Oliveira Cardoso, Maria Teresinha, Heredia, Romina Soledad, da Silva Rosa, Maria Teresa Alves, Martins, Bárbara Cátia, Poubel, Monique Oliveira, da Silva, Luiz Carlos Santana, Maillot, François, Schwartz, Ida Vanessa Doederlein
Published in Genes (25.12.2020)
Published in Genes (25.12.2020)
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Journal Article
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil
Randon, Dévora N, Sperb-Ludwig, Fernanda, Vianna, Fernanda S L, Becker, Ana P P, Vargas, Carmen R, Sitta, Angela, Sant'Ana, Alexia N, Schwartz, Ida V D, Bitencourt, Fernanda H de
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Journal Article
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
Sperb-Ludwig, Fernanda, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel, Siebert, Marina, Jobim, Mariana, Vairo, Filippo, Schwartz, Ida V D
Published in Genetics and molecular biology (01.07.2019)
Published in Genetics and molecular biology (01.07.2019)
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