Aleix Navarro‐Sastre

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

Changes in intestinal and liver global gene expression in response to a phytosterol-enriched diet

Laura Calpe‐Berdiel, Joan Carles Escolá‐Gil, Vicent Ribas et al. · Atherosclerosis · 2005 · 101 citations

Life Sciences, Biochemistry, Genetics +14

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 · 87 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Clinical and inflammatory markers in amniotic fluid as predictors of adverse outcomes in preterm premature rupture of membranes

Teresa Cobo, Montse Palacio, Mònica Martínez-Terrón et al. · American Journal of Obstetrics and Gynecology · 2011 · 78 citations

Medicine, Maternal Health, Obstetrics +15

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

Ángeles Ruiz, Judit García‐Villoria, Aída Ormazábal et al. · Molecular Genetics and Metabolism · 2007 · 62 citations

Life Sciences, Biochemistry, Molecular Biology +9