Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

por Poloni, Soraia, Blom, Henk J., Schwartz, Ida V. D.
Publicado 2015

Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta

por Vanz, Ana Paula, Félix, Têmis M, da Rocha, Neusa Sica, Schwartz, Ida V D
Publicado 2015

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

por Weber Hoss, Giovana R., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D., Blom, Henk J.
Publicado 2020

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome...

por Elstein, Deborah, Giugliani, Roberto, Muenzer, Joseph, Schenk, Jörn, Schwartz, Ida V.D., Anagnostopoulou, Christina
Publicado 2021

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis

por Alegra, Taciane, Vairo, Filippo, de Souza, Monica V., Krug, Bárbara C., Schwartz, Ida V.D.
Publicado 2012

Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center

por Schwartz, Ida V.D., Silva, Thiago O., Poswar, Fabiano O., Souza, Carolina F.M., Giugliani, Roberto
Publicado 2021

Cytokines levels in late-diagnosed Classical Homocystinuria patients

por Poloni, Soraia, Siebert, Marina, Donis, Karina Carvalho, Weber Hoss, Giovana R., Blom, Henk J., Schwartz, Ida V.D.
Publicado 2018

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

por Giugliani, Roberto, Vairo, Filippo P., Riegel, Mariluce, de Souza, Carolina F. M., Schwartz, Ida V. D., Pena, Sérgio D. J.
Publicado 2016

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

por Velho, Renata Voltolini, Alegra, Taciane, Sperb, Fernanda, Ludwig, Nataniel Floriano, Saraiva-Pereira, Maria Luiza, Matte, Ursula, Schwartz, Ida V.D.
Publicado 2014

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

por Sperb-Ludwig, Fernanda, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel, Siebert, Marina, Jobim, Mariana, Vairo, Filippo, Schwartz, Ida V. D.
Publicado 2019

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

por Velho, Renata Voltolini, De Pace, Raffaella, Klünder, Sarah, Sperb-Ludwig, Fernanda, Lourenço, Charles Marques, Schwartz, Ida V. D., Braulke, Thomas, Pohl, Sandra
Publicado 2015

COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective

por Schwartz, Ida V.D., Randon, Dévora N., Ferraro, Lethicia C., de Souza, Carolina F.M., Horovitz, Dafne D.G., de Sá, Natan M., Brunoni, Decio
Publicado 2021

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

por Wilke, Matheus V. M. B., Dornelles, Alícia D., Schuh, Artur S., Vairo, Filippo P., Basgalupp, Suelen P., Siebert, Marina, Nalin, Tatiele, Piltcher, Otavio B., Schwartz, Ida V. D.
Publicado 2019

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

por Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, de Souza, Carolina F.M, Schwartz, Ida V.D., Matte, Ursula, Giugliani, Roberto
Publicado 2019

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

por Paz, José A., Embiruçu, Emilia K., Bueno, Clarissa, Ferreira, Rafaela C. C. L., Oliveira, Fernanda S., Pereira, Ane S. S., Schwartz, Ida V. D., Paiva, Anderson R. B., Lucato, Leandro T., Kok, Fernando
Publicado 2021

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...

por 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., de Bitencourt, Fernanda H.
Publicado 2020

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

por 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.
Publicado 2021

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

por Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V. D., Saute, Jonas A., Ferraz, Victor E. F., Acosta, Angelina X., Sorte, Ney Boa, Alves, Domingos
Publicado 2022

Gender, Race and Parenthood Impact Academic Productivity During the COVID-19 Pandemic: From Survey to Action

por Staniscuaski, Fernanda, Kmetzsch, Livia, Soletti, Rossana C., Reichert, Fernanda, Zandonà, Eugenia, Ludwig, Zelia M. C., Lima, Eliade F., Neumann, Adriana, Schwartz, Ida V. D., Mello-Carpes, Pamela B., Tamajusuku, Alessandra S. K., Werneck, Fernanda P., Ricachenevsky, Felipe K., Infanger, Camila, Seixas, Adriana, Staats, Charley C., de Oliveira, Leticia
Publicado 2021

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

por Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E., Carvalho, Maria R. S., Fonseca, Pablo A. S., Camelo, José S., Ribeiro, Erlane M., de Medeiros, Paula F. V., Lourenço, Charles M., de Souza, Carolina F. M., Boy, Raquel, Félix, Têmis M., Bittar, Camila M., Pinto, Louise L. C., Neto, Eurico C., Blom, Henk J., Schwartz, Ida V. D.
Publicado 2017