José Antonio Arranz

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling et al. · The American Journal of Human Genetics · 2011 · 278 citations · Full text

Topical Administration of GLP-1 Receptor Agonists Prevents Retinal Neurodegeneration in Experimental Diabetes

Cristina Hernández, Patricia Bogdanov, Lídia Corraliza et al. · Diabetes · 2015 · 242 citations · Full text

Ocular Disease, Experimental Diabetes, Retinal Neurodegeneration +18

Safety of Ornithine Phenylacetate in Cirrhotic Decompensated Patients

Meritxell Ventura‐Cots, José Antonio Arranz, Macarena Simón‐Talero et al. · Journal of Clinical Gastroenterology · 2013 · 70 citations

Estimation of the total number of disease‐causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

José Antonio Arranz, E. Riudor, Clara Marco‐Marín et al. · Journal of Inherited Metabolic Disease · 2007 · 45 citations

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

José Antonio Arranz, F. Piñol, Libor Kozák et al. · Human Mutation · 2002 · 39 citations

Tyrosinemia Type, Genetics, Pathology +18