L-2-hydroxyglutaric aciduria: A report of six cases and review of the literature

Archives of Iranian Medicine

Volumn 9, Issue 2, 2006, Pages 165-169

  Shafeghati, Yousef ^a   Vakili, Ghazal ^a   Entezari, Ali ^a  

^a UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

Author keywords

Duranin gene; L 2 hydroxyglutaric aciduria; Macrocephaly; OH glutarate dehydrogenase; Urine organic acid screening

Indexed keywords

2 HYDROXYGLUTARIC ACID;

2 HYDROXYGLUTARIC ACIDURIA; ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; HEAD CIRCUMFERENCE; HUMAN; IRAN; LEUKOENCEPHALOPATHY; MACROCEPHALY; MALE; MENTAL DETERIORATION; METABOLIC DISORDER; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SYMPTOM; URINE LEVEL; WHITE MATTER;

ADOLESCENT; BRAIN DISEASES, METABOLIC, INBORN; CHILD, PRESCHOOL; CONSANGUINITY; DEMENTIA, VASCULAR; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLUTARATES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; PEDIGREE; RARE DISEASES;

EID: 33645766325     PISSN: 10292977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

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