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Neuropediatrics|October 9, 2002
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patientsM Castro, C Pérez-Cerdá, B Merinero, et al.
European Journal of Pediatrics|February 14, 1998
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysisC Pérez-Cerdá, B Merinero, M Martí, et al.
Journal of Inherited Metabolic Disease|August 15, 2006
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathyB Merinero, C Pérez-Cerdá, P Ruiz Sala, et al.
Archives of Biochemistry and Biophysics|January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patientsC H Casale, N Casals, J Pié, et al.
Journal of Inherited Metabolic Disease|October 25, 2007
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation groupB Merinero, B Pérez, C Pérez-Cerdá, et al.
JIMD Reports|February 23, 2016
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/SerumP Ruiz Sala, G Ruijter, C Acquaviva, et al.
Pediatric Research|August 29, 2000
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinctC Busquets, B Merinero, E Christensen, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
Potential relationship between genotype and clinical outcome in propionic acidaemia patientsC Pérez-Cerdá, B Merinero, P Rodríguez-Pombo, et al.
JIMD Reports|July 30, 2017
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening CentersB Merinero, P Alcaide, E Martín-Hernández, et al.
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