Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Jimd Reports
Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A