Ida Vanessa Döederlein Schwartz (Ida Vanessa D Schwartz, Ida V D Schwartz, Ida V D Schwartz, Ida Vanessa Doederlein Schwartz, I V D Schwartz)

ResearcherID Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 34

Top Topics

Duchenne Muscular Dystrophy

Genome Wide Analysis

Cognitive Decline

Top Venues

Genetics and molecular biology

Metabolic brain disease

Orphanet journal of rare diseases

Molecular genetics & genomic medicine

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

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)
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano de Oliveira Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Döederlein Schwartz
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 47 (1) (2024)
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano de Oliveira Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Döederlein Schwartz
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 47 (1) (2024)
Amanda Pasqualotto, Vinícius da Silva, Felipe Mateus Pellenz, Artur Francisco Schumacher Schuh, Ida Vanessa Döederlein Schwartz, Marina Siebert
Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach. Metabolic brain disease 39 (4) (2024)
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano de Oliveira Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Döederlein Schwartz
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 47 (1) (2024)
Amanda Pasqualotto, Vinícius da Silva, Felipe Mateus Pellenz, Artur Francisco Schumacher Schuh, Ida Vanessa Döederlein Schwartz, Marina Siebert
Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach. Metabolic brain disease (2024)
Amanda Pasqualotto, Vinícius da Silva, Felipe Mateus Pellenz, Artur Francisco Schumacher Schuh, Ida Vanessa Döederlein Schwartz, Marina Siebert
Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach. Metabolic brain disease 39 (4) (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)
Amanda Pasqualotto, Vinícius da Silva, Felipe Mateus Pellenz, Artur Francisco Schumacher Schuh, Ida Vanessa Döederlein Schwartz, Marina Siebert
Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach. Metabolic brain disease 39 (4) (2024)
Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani, Ida Vanessa Döederlein Schwartz
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF. Orphanet journal of rare diseases 18 (1) (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)
Alexia Diovana Fernandes da Rocha, Chenia Caldeira Martinez, Lilia Farret Refosco, Tássia Tonon, Ida Vanessa Döederlein Schwartz, Sheila Tamanini de Almeida
Feeding difficulties in patients with Phenylketonuria. CoDAS 35 (6) (2023)
Ida Vanessa Döederlein Schwartz, Andrea Amaro Quesada, Erlane Marques Ribeiro, Ana Maria Martins, Daniel Reda Fenga Vilela, Andre Luis Santos Pessoa
Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil. Arquivos de neuro-psiquiatria (2023)
Fernanda Staniscuaski, Eugenia ZandonÀ, Fernanda Reichert, Rossana Colla Soletti, Pâmela Billig Mello Carpes, Giulia Alessandra Wiggers, Ida Vanessa Döederlein Schwartz, Fernanda P Werneck, Zélia Maria Da Costa Ludwig, Adriana Neumann, Camila Infanger Almeida, Leticia DE Oliveira
It is not just a field on a form: maternity on the Sucupira Platform. Anais da Academia Brasileira de Ciencias 95 (2) (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)
A L S Pessoa, A M Martins, E M Ribeiro, N Specola, A Chiesa, D Vilela, E Jurecki, D Mesojedovas, Ida Vanessa Döederlein Schwartz
Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies. Orphanet journal of rare diseases 17 (1) (2022)
Fernanda Staniscuaski, Eugenia ZandonÀ, Fernanda Reichert, Rossana Colla Soletti, Leticia DE Oliveira, Felipe Klein Ricachenevsky, Alessandra Sayuri Kikuchi Tamajusuku, Lívia Kmetzsch, Ida Vanessa Döederlein Schwartz, Fernanda P Werneck, Zélia Maria Da Costa Ludwig, Eliade F Lima, Camila Infanger Almeida, Adriana Neumann, Alessandra BrandÃo, Giulia Alessandra Wiggers, Adriana Seixas, Pâmela Billig Mello Carpes
Maternity in the Brazilian CV Lattes: when will it become a reality? Anais da Academia Brasileira de Ciencias 93 (1) (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)
Giovana Sasso Turra, Ida Vanessa Döederlein Schwartz, Sheila Tamanini de Almeida, Chenia Caldeira Martinez, Maristela Bridi, Sérgio Saldanha Menna Barreto
Efficacy of speech therapy in post-intubation patients with oropharyngeal dysphagia: a randomized controlled trial. CoDAS 33 (2) (2021)
Fernanda Staniscuaski, Fernanda Reichert, Eugenia ZandonÀ, Rossana Colla Soletti, Camila Infanger Almeida, Pâmela Billig Mello Carpes, Zélia Maria Da Costa Ludwig, Lívia Kmetzsch, Felipe Klein Ricachenevsky, Fernanda P Werneck, Giulia Alessandra Wiggers, Ida Vanessa Döederlein Schwartz, Eliade F Lima, Alessandra Sayuri Kikuchi Tamajusuku, Adriana Neumann, Adriana Seixas, Alessandra Brandao, Leticia DE Oliveira
Time to fight the pandemic setbacks for caregiver academics. Nature human behaviour 5 (10) (2021)
Vaneisse C L Monteiro, Bibiana M de Oliveira, Bruna B Dos Santos, Fernanda Sperb-Ludwig, Lilia F Refosco, Tatiele Nalin, Terry G J Derks, Carolina F Moura de Souza, Ida Vanessa Döederlein Schwartz
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia. Orphanet journal of rare diseases 16 (1) (2021)
Rodrigo Tzovenos Starosta, Mário Reis Alvares-DA-Silva, Ida Vanessa Döederlein Schwartz
Concerning 'Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease' by Nascimbeni et al. Liver international : official journal of the International Association for the Study of the Liver 41 (1) (2021)
Katia Irie Teruya, Eduardo Remor, Ida Vanessa Döederlein Schwartz
Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients. American journal of medical genetics. Part A 185 (7) (2021)
Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto E Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni, Ida Vanessa Döederlein Schwartz, Carlos Thadeu Schmidt Cerski
Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1. Autopsy & case reports 11 (2021)
Ida Vanessa Döederlein Schwartz, Dévora Natalia Randon, Natan Monsores, Carolina Fischinger Moura de Souza, Dafne Dain Gandelman Horovitz, Matheus Vernet Machado Bressan Wilke, Decio Brunoni
SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey. American journal of medical genetics. Part C, Seminars in medical genetics 187 (3) (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)
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)
Florin Bösch, Markus Andreas Landolt, Matthias R Baumgartner, Nina A Zeltner, Stefan Kölker, Florian Gleich, Alberto B Burlina, Chiara Cazzorla, Wendy Packman, Ida Vanessa Döederlein Schwartz, Eduardo Vieira Neto, Márcia G Ribeiro, Diego Martinelli, Giorgia Olivieri, Martina Huemer
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. Journal of inherited metabolic disease 44 (1) (2020)
Katherine Abell, Sarah E Chadwell, Thomas Andrew Burrow, Ana Paula Pizzio Becker, Laurie Bailey, Paul Steele, Xue Zhang, Miguel Islas-Ohlmayer, Rosane Bittencourt, Ida Vanessa Döederlein Schwartz, Carlos E Prada
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)
Katia Irie Teruya, Eduardo Remor, Ida Vanessa Döederlein Schwartz
Development of an inventory to assess perceived barriers related to PKU treatment. Journal of patient-reported outcomes 4 (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)
Soraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, Giovana Weber Hoss, Maria Juliana R Doriqui, Emília K Embiruçu, Ney Boa-Sorte, Charles Marques, Chong A Kim, Carolina Fischinger Moura de Souza, Helio Rocha, Marcia Ribeiro, Carlos E Steiner, Carolina A Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y C Wanderley, Johanna Kugele, Melanie Walter, Lorena Gallego-Villar, Henk J Blom, Ida Vanessa Döederlein Schwartz
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. Molecular genetics & genomic medicine 6 (2) (2018)