NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

por Zanette, Vanessa, do Valle, Daniel, Telles, Bruno Augusto, Robinson, Alan J., Monteiro, Vaneisse, Santos, Mara Lucia S. F., Souza, Ricardo Lehtonen R., Benincá, Cristiane
Publicado 2021

Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI

por de Oliveira-Silva, José Araújo, Yamamoto, Joyce Umbelino Pinto, de Oliveira, Renata Bernardes, Monteiro, Vaneisse Cristina Lima, Frangipani, Beatriz Jurkiewcz, Kyosen, Sandra Obikawa, Martins, Ana Maria, D’Almeida, Vânia
Publicado 2019

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

por Zanette, Vanessa, Reyes, Aurelio, Johnson, Mark, do Valle, Daniel, Robinson, Alan J., Monteiro, Vaneisse, Telles, Bruno Augusto, L.R. Souza, Ricardo, S.F. Santos, Mara L, Benincá, Cristiane, Zeviani, Massimo
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