L-2-hydroxyglutaric aciduria: Clinical, biochemical and neuroradiological findings in two Venezuelan patients;Aciduria L-2-hidroxiglutárica: Aspectos clínicos, bioquímicos y de neuroimagen en dos pacientes Venezolanos

Revista de Neurologia

Volumn 39, Issue 4, 2004, Pages 343-346

  Mahfoud, Antonieta ^a   Dominguez C L ^a   Perez A ^a   Rodriguez T ^a   Canizales E ^b   Jaimes, V H ^b   Abadi A ^c   Perez E M ^c   Belisario, H B ^c  

^a Instituto Internacional de Estudios Avanzados IDEA   (Venezuela)

^b Hospital Miguel Perez Carreno   (Venezuela)

^c HOSPITAL UNIVERSITARIO DE CARACAS   (Venezuela)

Author keywords

Ataxia; L 2 hidroxyglutaric aciduria; Mental retardation; Subcortical leucoencephalopathy

Indexed keywords

GLUTARIC ACID DERIVATIVE; LEVO 2 HYDROXYGLUTARIC ACID; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; BASAL GANGLION; BLOOD LEVEL; BRAIN CORTEX; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBROSPINAL FLUID ANALYSIS; CHEMICAL ANALYSIS; CLINICAL FEATURE; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DENTATE NUCLEUS; EXTRAPYRAMIDAL SYMPTOM; GAS CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; LEUKOENCEPHALOPATHY; LEVO 2 HYDROXYGLUTARIC ACIDURIA; MACROCEPHALY; MASS SPECTROMETRY; MENTAL DEFICIENCY; NEUROIMAGING; PSYCHOMOTOR RETARDATION; PYRAMIDAL SIGN; SCHOOL CHILD; SEIZURE; SUBCORTICAL LEUKOENCEPHALOPATHY; URINE LEVEL; VENEZUELA; WHITE MATTER;

EID: 4744350766     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3904.2004143     Document Type: Article

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