A. Aracil

Departamento de Salud — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index381citations14works0.02yr avg
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Research Topics

Mitochondrial Function and Pathology(5), Genetic Neurodegenerative Diseases(3), Genetics and Neurodevelopmental Disorders(3), Coenzyme Q10 studies and effects(3), DNA Repair Mechanisms(2)

Publications14 total

SAT0600 The Approach of Rheumatic and Musculoskeletal Diseases Combining Virtual and Face-To-Face Consultations Is A Resource-Saving Strategy
Annals of the Rheumatic Diseases·2016
Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)
The Cerebellum·2011· 32 cited
3FC1.2 Niemann-Pick disease type C when to give and discontinue treatment with substrate inhibitor therapy
European Journal of Paediatric Neurology·2011
O6-3 Coenzyme Q10 responsive ataxia
European Journal of Paediatric Neurology·2009
Vanishing White Matter Disease Associated with Progressive Macrocephaly
Neuropediatrics·2008· 8 cited
Folate Receptor Autoantibodies and Spinal Fluid 5-Methyltetrahydrofolate Deficiency in Rett Syndrome
Neuropediatrics·2007· 63 citedOpen Access
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
The Cerebellum·2007· 59 cited
Cerebrospinal Fluid Concentrations of Folate, Biogenic Amines and Pterins in Rett Syndrome: Treatment with Folinic Acid
Neuropediatrics·2005· 35 cited
Cerebrospinal Fluid Concentrations of Idebenone in Friedreich Ataxia Patients
Neuropediatrics·2004· 17 cited
Friedreich's Ataxia: Idebenone Treatment in Early Stage Patients
Neuropediatrics·2002· 111 cited
Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection
Journal of Neuroscience Methods·2002· 9 cited
Necrosis mediofacial secundaria al abuso de cocaína
Acta Otorrinolaringológica Española·2002· 12 cited
3‐phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
Developmental Medicine & Child Neurology·2000· 10 citedOpen Access
Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity
Developmental Medicine & Child Neurology·1998· 25 citedOpen Access

Frequent Co-authors

Rafael Artuch(9), M. Pineda(6), M. Pineda(3), Raquel Montero(3), Marina Vilaseca(3), Catrina Colomé(2), Eugènia Monrós(2), Aída Ormazábal(2), Mercè Pineda(2), M. Antònia Vilaseca(2), Plácido Navas(2), M. Mar O’Callaghan(2), P. Briones(2), A. Mas(1), Miquel Rissech(1), V. Ramaekers(1), J.M. Sequeira(1), Nenad Blau(1), Teresa Temudo(1), Filip Roelens(1)