Glycosaminoglycan Storage Disorders: A Review

por Coutinho, Maria Francisca, Lacerda, Lúcia, Alves, Sandra
Publicado 2012

Genotype‐phenotype correlations and BH(4) estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

por Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, Carvalho, Lilian M., Lacerda, Lúcia, Ribeiro, Márcia G.
Publicado 2019

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

por Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, d. M. Carvalho, Lilian, Lacerda, Lúcia, G. Ribeiro, Márcia
Publicado 2018

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

por Encarnação, Marisa, Coutinho, Maria Francisca, Cho, Soo Min, Cardoso, Maria Teresa, Ribeiro, Isaura, Chaves, Paulo, Santos, Juliana Inês, Quelhas, Dulce, Lacerda, Lúcia, Leão Teles, Elisa, Futerman, Anthony H., Vilarinho, Laura, Alves, Sandra
Publicado 2020

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

por Fernández-Marmiesse, Ana, Morey, Marcos, Pineda, Merce, Eiris, Jesús, Couce, Maria Luz, Castro-Gago, Manuel, Fraga, Jose Maria, Lacerda, Lucia, Gouveia, Sofia, Pérez-Poyato, Maria Socorro, Armstrong, Judith, Castiñeiras, Daisy, Cocho, Jose A
Publicado 2014