Fernanda Sperb-Ludwig

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 17

Top Venues

Genetics and molecular biology

Genes

Molecular genetics & genomic medicine

Human mutation

Universidade Federal do Rio Grande do Sul (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Universidade Federal do Rio Grande do Sul

Brazil

PHD :: Genetic and Molecular Biology

Publications

Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J Blom, François Maillot, Ida Vanessa Döederlein Schwartz
Homocysteine and methylmalonic acid in Phenylketonuria patients. Genetics and molecular biology 46 (3 Suppl 1) (2024)
Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J Blom, François Maillot, Ida Vanessa Döederlein Schwartz
Homocysteine and methylmalonic acid in Phenylketonuria patients. Genetics and molecular biology 46 (3 Suppl 1) (2024)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Döederlein Schwartz
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts. Genetics and molecular biology 46 (3 Suppl 1) (2023)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Gerda Cristal Villalba Silva, Taciane Borsatto, Ida Vanessa Döederlein Schwartz, Fernanda Sperb-Ludwig
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs. Genetics and molecular biology 45 (1) (2022)
Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Ida V D Schwartz
Epidemiological aspects of hereditary fructose intolerance: A database study. Human mutation 42 (12) (2021)
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson Araújo da Silva Junior, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Ida Vanessa Döederlein Schwartz, Veronica Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb-Ludwig, Ester S Borges, José Simon Camelo
Molecular basis of various forms of maple syrup urine disease in Chilean patients. Molecular genetics & genomic medicine 9 (5) (2021)
Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira, Camila Matuella, Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Fernando Kok, Ida Vanessa Döederlein Schwartz, Fernanda Sperb-Ludwig
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant. Genetics and molecular biology 44 (2) (2021)
Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Ida Vanessa Döederlein Schwartz, Henk J Blom
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. Molecular genetics & genomic medicine 8 (6) (2020)
Ana Vitoria Barban Margutti, Wilson Araújo da Silva Junior, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lucia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity. Orphanet journal of rare diseases 15 (1) (2020)
Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J Simon Wiegert, Ida V D Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma. Disease models & mechanisms 13 (11) (2020)
Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue Braun, Tássia Tonon, Maria Teresinha de Oliveira Cardoso, Romina Soledad Heredia, Maria Teresa Alves da Silva Rosa, Bárbara Cátia Martins, Monique Oliveira Poubel, Luiz Carlos Santana da Silva, François Maillot, Ida Vanessa Döederlein Schwartz
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients. Genes 12 (1) (2020)
Dévora N Randon, Fernanda Sperb-Ludwig, Fernanda S L Vianna, Ana P P Becker, Carmen R Vargas, Angela Sitta, Alexia N Sant'Ana, Ida Vanessa Döederlein Schwartz, Fernanda Hendges de Bitencourt
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. Genetics and molecular biology 43 (3) (2020)
Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. Molecular genetics & genomic medicine 7 (11) (2019)
Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Pinto E Vairo, Ida V D Schwartz
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. Genetics and molecular biology 42 (3) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Fernanda Sperb-Ludwig