E. Riudor

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 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Safety of Ornithine Phenylacetate in Cirrhotic Decompensated Patients

Meritxell Ventura‐Cots, José Antonio Arranz, Macarena Simón‐Talero et al. · Journal of Clinical Gastroenterology · 2013 · 71 citations

Pharmacy, Pharmacokinetics, Pharmacology +16

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 · 46 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Life Sciences, Genetics, Molecular Genetics +13

Pearson syndrome: Altered tricarboxylic acid and urea‐cycle metabolites, adrenal insufficiency and corneal opacities

Antònia Ribes, E. Riudor, R. Valcárel et al. · Journal of Inherited Metabolic Disease · 1993 · 37 citations

Medicine, Endocrinology, Ophthalmology +17