Eva Richard

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (<i>cblC</i>) with homocystinuria (MMACHC)

Eva Richard, Ana Jorge‐Finnigan, Judit García‐Villoria et al. · Human Mutation · 2009 · 95 citations

Genetics, Genetic Epidemiology, Human Polymorphism +17

Adenosine deaminase deficiency with mosaicism for a “second-site suppressor” of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy

Francisco X. Arredondo-Vega, Inés Santisteban, Eva Richard et al. · Blood · 2002 · 72 citations · Full text

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

Celia Pérez‐Cerdá, B. Merinero, Pilar Rodríguez‐Pombo et al. · European Journal of Human Genetics · 2000 · 69 citations · Full text

Electrolyte Disorder, Potential Relationship, Inherited Metabolic Disease +6

The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV

Eva Richard, Francisco X. Arredondo-Vega, Inés Santisteban et al. · The Journal of Experimental Medicine · 2000 · 57 citations · Full text

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

Lorena Gallego‐Villar, Celia Pérez‐Cerdá, Belén Pérez et al. · Journal of Inherited Metabolic Disease · 2012 · 56 citations