Aída Ormazábal - Concepedia

Author

Aída Ormazábal

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

A Ormazabal, A Ormazábal, A. Ormazabal, A. Ormazábal, A. Ormazábal, Aida Ormazabal, Aida Ormazábal, Aida Ormazábal Herrero, Aída Ormazabal, Aída Ormazábal

109

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Hospital Sant Joan de Déu Barcelona Instituto de Salud Carlos III Universitat de Barcelona Institut de Recerca Sant Joan de Déu

About

Aída Ormazábal is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, neurology, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	30	1.1K
2	Natural Sciences	3	3	124
3	Engineering	1	1	107
4	Health Sciences	1	1	22
5	Public Health	1	1	63

Aída Ormazábal

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion Merçè Pineda, Aída Ormazábal, Ester López‐Gallardo, Annals of Neurology	2005	158
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, Journal of Neuroscience Methods Fluorescence Detection ProceduresInborn ErrorsEngineeringBiochemistryMedicine	2004	107
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome Sofia Duarte, Judith Armstrong, Ana Roche, PLoS ONE	2013	90
MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY Àngels García‐Cazorla, Elizabeth Quadros, A. Nascimento, Neurology	2008	83
Levodopa‐induced dyskinesias in tyrosine hydroxylase deficiency Roser Pons, Dimitrios Syrengelas, Sotiris Youroukos, Movement Disorders Translational MedicineMendelian DisorderMedicineTyrosine Hydroxylase DeficiencyL-dopa Dose	2013	77
Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening Ángela Arias, Marc Corbella, Carmen Fons, Clinical Biochemistry Metabolic SyndromeCreatine Transporter DeficiencyMetabolic DisorderPsychiatryMetabolite Screening	2007	76
Cerebral Folate Deficiency Syndromes in Childhood Belén Pérez‐Dueñas, Aída Ormazábal, Claudio Toma, Archives of Neurology	2011	67
Folate Receptor Autoantibodies and Spinal Fluid 5-Methyltetrahydrofolate Deficiency in Rett Syndrome V. Ramaekers, J.M. Sequeira, Rafael Artuch, Neuropediatrics NutritionMendelian DisorderAutoimmune DiseaseSerum Folate ReceptorGenetic Disorder	2007	63
A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency Ángeles Ruiz, Judit García‐Villoria, Aída Ormazábal, Molecular Genetics and Metabolism BiochemistryNatural SciencesMolecular BiologyMedicineRedox Biology	2007	62
Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features Mercedes Serrano, María Teresa García‐Silva, Elena Martín‐Hernández, Mitochondrion Kearns-sayre SyndromeMendelian DisorderNeurological DisorderCerebrospinal FluidInherited Metabolic Disease	2010	59

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