Cobalamin (Cbl) C/D deficiency: Clinical, neurophysiological and neuroradiologic findings in 14 cases

Neuropediatrics

Volumn 32, Issue 1, 2001, Pages 14-22

  Biancheri, R ^a   Cerone, R ^a   Schiaffino, M C ^a   Caruso, U ^a   Veneselli, E ^a   Perrone, M V ^a   Rossi, A ^a   Gatti, R ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

Homocystinuria; Magnetic resonance angiography; Magnetic resonance imaging; Methylmalonic aciduria; Neurophysiological investigations

Indexed keywords

COBALAMIN; METHYL GROUP;

ACIDURIA; ARTICLE; BRAIN ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE COURSE; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; HOMOCYSTINURIA; HUMAN; HYDROCEPHALUS; INFANT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NEUROPHYSIOLOGY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SEIZURE; VITAMIN DEFICIENCY; WHITE MATTER;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ATROPHY; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CHILD, PRESCHOOL; COBAMIDES; CYTOSOL; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS; FEMALE; FOLLOW-UP STUDIES; HOMOCYSTINURIA; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; SEIZURES; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 0035066856     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-12217     Document Type: Article

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