Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil Lipofuscinoses ceróides neuronais: estudo clínico e morfológico de 17 pacient...

Por ANA CRISTINA S PUGA, LAURA B JARDIM, LEILA CHIMELLI, CAROLINA F M DE SOUZA, MARTA CLIVATI
Publicado em 2000-09-01

Glycogen storage disease type I: clinical and laboratory profile

Por Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz
Publicado em 2014-12-01

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

Por Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Publicado em 2017-01-01