Ethylmalonic encephalopathy: Further clinical and neuroradiological characterization

Journal of Neurology

Volumn 249, Issue 10, 2002, Pages 1446-1450

  Grosso, Salvatore ^a   Mostardini, Rosa ^a   Farnetani, Maria Angela ^a   Molinelli, Massimo ^a   Berardi, Rosario ^a   Dionisi Vici, Carlo ^b   Rizzo, Cristiano ^b   Morgese, Guido ^a   Balestri, Paolo ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Ethylmalonic aciduria; Ethylmalonic encephalopathy; MRI; Neurometabolic disease; SCAD deficiency

Indexed keywords

CORTICOTROPIN; ETHYLMALONIC ACID; MALONIC ACID DERIVATIVE; PROSTAGLANDIN SYNTHASE; SUCCINIC ACID DERIVATIVE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN DISEASE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DOSE RESPONSE; ENZYME DEFICIENCY; ETHYLMALONIC ENCEPHALOPATHY; FEMALE; FOLLOW UP; HUMAN; HUMAN CELL; HUMAN TISSUE; IMAGE ANALYSIS; LABORATORY TEST; NEUROLOGIC EXAMINATION; NEURORADIOLOGY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TONIC SEIZURE; TREATMENT OUTCOME; URINE LEVEL;

BRAIN DISEASES, METABOLIC, INBORN; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALONATES; MUSCLES; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASES; SUCCINATES;

EID: 0036407341     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-002-0880-4     Document Type: Article

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