Epidemiological aspects of hereditary fructose intolerance: A database study von Pinheiro, Franciele C., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D.

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Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases von Weber Hoss, Giovana R., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D., Blom, Henk J.

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Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations von Velho, Renata Voltolini, Ludwig, Nataniel Floriano, Alegra, Taciane, Sperb-Ludwig, Fernanda, Guarany, Nicole Ruas, Matte, Ursula, Schwartz, Ida V D

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Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study von 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

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Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs von Silva, Gerda Cristal Villalba, Borsatto, Taciane, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda

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

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Molecular basis of various forms of maple syrup urine disease in Chilean patients von 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.

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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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Homocysteine and methylmalonic acid in Phenylketonuria patients von Hoss, Giovana Regina Weber, Sperb-Ludwig, Fernanda, Tonon, Tássia, Poloni, Soraia, Behringer, Sidney, Blom, Henk J, Maillot, François, Schwartz, Ida Vanessa Doederlein

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CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients von 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.

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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity von 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

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A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia von 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

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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 sou... von 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

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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma von 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

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Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study von 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.

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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients von 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

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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 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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Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma von Sperb-Ludwig, Fernanda, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel, Siebert, Marina, Jobim, Mariana, Vairo, Filippo, Schwartz, Ida V D

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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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