Mercedes Martínez‐Pardo

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

Christiane Busquets, B. Merinero, Ernst Christensen et al. · Pediatric Research · 2000 · 132 citations · Full text

Aldehyde Dehydrogenase, Metabolic Disorder, Genetics +6

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

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

Celia Pérez‐Cerdá, B. Merinero, Pilar Rodríguez‐Pombo et al. · European Journal of Human Genetics · 2000 · 69 citations · Full text

Electrolyte Disorder, Potential Relationship, Inherited Metabolic Disease +6

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype

Lourdes R. Desviat, Belén Pérez, Amaya Bélanger-Quintana et al. · Molecular Genetics and Metabolism · 2004 · 65 citations

Inherited Metabolic Disease, Pathology, Tetrahydrobiopterin Responsiveness +2

Physical development in patients with phenylketonuria on dietary treatment: A retrospective study

Amaya Bélanger‐Quintana, Mercedes Martínez‐Pardo · Molecular Genetics and Metabolism · 2011 · 62 citations

Physical Development, Nutrition, Retrospective Study +12