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 no Biology (Basel) (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 no Health Qual Life Outcomes (2015)

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 em 2012

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 no Orphanet J Rare Dis (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 no Mol Genet Metab Rep (2014)

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 no Hum Mol Genet (2015)

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

Por Doneda, Divair, Vairo, Filippo P., Lopes, André L., Reischak-Oliveira, Álvaro, Schestatsky, Pedro, Bianchin, Marino M., Moulin, Cileide C., Schwartz, Ida V. D.
Publicado em 2013

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 no PLoS One (2017)