Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

por Couce, María L., Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro
Publicado 2016

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

por Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Hermida, Álvaro, Suarez, María Unceta, Martínez-González, María Jesús, Borges, Filipa, Wintjes, Liesbeth, Kappen, Antonia, Rodenburg, Richard, Couce, María-Luz
Publicado 2020

Carbohydrate status in patients with phenylketonuria

por Couce, María L., Sánchez-Pintos, Paula, Vitoria, Isidro, De Castro, María-José, Aldámiz-Echevarría, Luís, Correcher, Patricia, Fernández-Marmiesse, Ana, Roca, Iria, Hermida, Alvaro, Martínez-Olmos, Miguel, Leis, Rosaura
Publicado 2018

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

por Rocha, Júlio César, Ahring, Kirsten K., Bausell, Heather, Bilder, Deborah A., Harding, Cary O., Inwood, Anita, Longo, Nicola, Muntau, Ania C., Pessoa, André L. Santos, Rohr, Fran, Sivri, Serap, Hermida, Álvaro
Publicado 2023

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants

por Sánchez, Rosario, Ripoll-Vera, Tomás, López-Mendoza, Manuel, de Juan-Ribera, Joaquín, Gimeno, Juan Ramón, Hermida, Álvaro, Ruz-Zafra, María Aurora, Torregrosa, José Vicente, Mora, Antonia, García-Pinilla, José Manuel, Fortuny, Elena, Aguinaga-Barrilero, Ana, Torra, Roser
Publicado 2023