Rosa Navarrete

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the<i>PPM</i><i>1</i><i>K</i>Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Alfonso Oyarzábal, Mercedes Martínez‐Pardo, B. Merinero et al. · Human Mutation · 2012 · 119 citations

Cloning and expression in a heterologous host of the complete set of genes for biosynthesis of the Streptomyces coelicolor antibiotic undecylprodigiosin

Francisco Malpartida, Jarmo Niemi, Rosa Navarrete et al. · Gene · 1990 · 84 citations

Biosynthesis, Antimicrobial Resistance Gene, Complete Set +8

Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Àngels García‐Cazorla, Alfonso Oyarzábal, Joana Fort et al. · Human Mutation · 2014 · 82 citations

Oral Bcaa Supplementation, Brain Development, Neurological Disorder +27

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

Belén Pérez, Lourdes R. Desviat, Pilar Rodríguez‐Pombo et al. · Molecular Genetics and Metabolism · 2003 · 64 citations

Propionic Acidemia, Genetic Disorder, Medicine +8

Mutational spectrum of maple syrup urine disease in Spain

Pilar Rodríguez‐Pombo, Rosa Navarrete, B. Merinero et al. · Human Mutation · 2006 · 61 citations

Allelic Variant, Genetic Disorder, Genetics +14