Emilio Fernández‐Álvarez

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

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

Aída Ormazábal, Àngels García‐Cazorla, Yolanda Fernández et al. · Journal of Neuroscience Methods · 2004 · 107 citations

Fluorescence Detection Procedures, Inborn Errors, Engineering +10

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

Antonella Fogli, Renzo Guerrini, Francesca Moro et al. · Annals of Neurology · 1999 · 54 citations

Lis1 Protein Correlate, Classical Lissencephaly, Intracellular Levels +15

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

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

Mercedes Serrano, Mónica Rebollo, Christel Depienne et al. · Movement Disorders · 2012 · 47 citations