Proteomics in Inherited Metabolic Disorders

por Chantada-Vázquez, Maria del Pilar, Bravo, Susana B., Barbosa-Gouveia, Sofía, Alvarez, José V., Couce, María L.
Publicado 2022

Newborn screening for Fabry disease in the north-west of Spain

por Colon, Cristobal, Ortolano, Saida, Melcon-Crespo, Cristina, Alvarez, Jose V., Lopez-Suarez, Olalla E., Couce, Maria L., Fernández-Lorenzo, José R.
Publicado 2017

Plasma Proteomic Analysis in Morquio A Disease

por Álvarez, José V., Bravo, Susana B., Chantada-Vázquez, María Pilar, Barbosa-Gouveia, Sofía, Colón, Cristóbal, López-Suarez, Olalla, Tomatsu, Shunji, Otero-Espinar, Francisco J., Couce, María L.
Publicado 2021

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center

por Barbosa-Gouveia, Sofia, Vázquez-Mosquera, María E., González-Vioque, Emiliano, Álvarez, José V., Chans, Roi, Laranjeira, Francisco, Martins, Esmeralda, Ferreira, Ana Cristina, Avila-Alvarez, Alejandro, Couce, María L.
Publicado 2021

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans

por Arunkumar, Nivethitha, Vu, Dung Chi, Khan, Shaukat, Kobayashi, Hironori, Ngoc Can, Thi Bich, Oguni, Tsubasa, Watanabe, Jun, Tanaka, Misa, Yamaguchi, Seiji, Taketani, Takeshi, Ago, Yasuhiko, Ohnishi, Hidenori, Saikia, Sampurna, Álvarez, José V., Tomatsu, Shunji
Publicado 2021