Merçè Pineda

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

Merçè Pineda, Aída Ormazábal, Ester López‐Gallardo et al. · Annals of Neurology · 2005 · 158 citations

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

Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene

Marina Vilaseca, Eugènia Monrós, Rafael Artuch et al. · European Journal of Paediatric Neurology · 2000 · 64 citations

Medicine, Inherited Metabolic Disease, Anti-epileptic Drug Treatment +3

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

Paz Briones, Marta Vilaseca, M.T. García‐Silva et al. · European Journal of Paediatric Neurology · 2001 · 59 citations

Mitochondrial Myopathy, Mendelian Disorder, Mitochondrial Function +11

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: Reference values for a paediatric population

Aída Ormazábal, Àngels García‐Cazorla, Belén Pérez‐Dueñas et al. · Clinica Chimica Acta · 2006 · 49 citations

Pediatric Hydrocephalus, Cerebrospinal Fluid, Pediatrics +5