Aída Ormazábal
Instituto de Investigación de Enfermedades Raras(ES)Institut de Recerca Sant Joan de Déu
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Amino Acid Enzymes and Metabolism, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion(2005)158 cited
- → HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins(2004)107 cited
- → Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome(2013)90 cited
- → MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY(2008)83 cited
- → Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening(2007)77 cited
- → Levodopa‐induced dyskinesias in tyrosine hydroxylase deficiency(2013)77 cited