Judit García‐Villoria

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

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

Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Frederic Tort, Xènia Ferrer-Cortés, Marta Thió et al. · Human Molecular Genetics · 2013 · 84 citations · Full text

Genetics, 2-Ketoacid Dehydrogenase Complexes, Molecular Biology +19

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Dèlia Yubero, Raquel Montero, Miguel A. Martı́n et al. · Mitochondrion · 2016 · 77 citations

Biochemistry, Natural Sciences, Inherited Metabolic Disease +8

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Ángela Arias, Marc Corbella, Carmen Fons et al. · Clinical Biochemistry · 2007 · 76 citations

Metabolic Syndrome, Creatine Transporter Deficiency, Metabolic Disorder +5