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
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
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo, Giorgia, Westermann, Lena M., Yorgan, Timur A., Stürznickel, Julian, Ludwig, Nataniel F., Ammer, Luise S., Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R., Board, Tim N., Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N., Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P., Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M., Schwartz, Ida V. D., Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (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
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease
Scaini, Giselli, Tonon, Tássia, Moura de Souza, Carolina F., Schuck, Patricia F., Ferreira, Gustavo C., Quevedo, João, Neto, João Seda, Amorim, Tatiana, Camelo, Jose S., Margutti, Ana Vitoria Barban, Hencke Tresbach, Rafael, Sperb-Ludwig, Fernanda, Boy, Raquel, de Medeiros, Paula F. V., Schwartz, Ida Vanessa D., Streck, Emilio Luiz
Published in Journal of inherited metabolic disease (01.07.2018)
Published in Journal of inherited metabolic disease (01.07.2018)
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Journal Article
Determination of amylose/amylopectin ratio of starches
Nalin, Tatiéle, Sperb-Ludwig, Fernanda, Venema, Koen, Derks, Terry G. J., Schwartz, Ida Vanessa D.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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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
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
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
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
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
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
SILÍCIO FOLIAR NA TOLERÂNCIA AO DÉFICIT HÍDRICO NO FEIJÃO
Pohlmann, Valeria, Lazzari, Marcondes, Knies, Alberto Eduardo, Fernandes, Dirceu Maximino, Ludwig, Fernanda
Published in Ciência Agrícola (29.04.2022)
Published in Ciência Agrícola (29.04.2022)
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Journal Article
Teor e acúmulo de micronutrientes em gérbera de vaso em função de fontes e doses de potássio
Guerrero, Amaralina Celoto, Fernandes, Dirceu Maximino, Ludwig, Fernanda, Ferreira, Guilherme Amaral
Published in Revista verde de agroecologia e desenvolvimento sustentável (15.11.2016)
Published in Revista verde de agroecologia e desenvolvimento sustentável (15.11.2016)
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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