Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency

Metabolic Brain Disease

Volumn 17, Issue 1, 2002, Pages 13-18

  De Kremer, Raquel Dodelson ^a   Latini, Alexandra ^a   Suormala, Terttu ^a   Baumgartner, E Regula ^a   Larovere, Laura ^a   Civallero, Gabriel ^a   Guelbert, Norberto ^a   Paschini Capra, Ana ^a   Depetris Boldinil, Catalina ^a   Quiroga Mayor, Carlos ^a  

^a Hospital de Ninos   (Argentina)

Author keywords

3 Methylcrotonyl CoA carboxylase deficiency; Brain MRI; CSF purines; Leukodystrophy

Indexed keywords

CARBOXYLIC ACID; METHYLCROTONOYL COENZYME A CARBOXYLASE; PURINE;

AREFLEXIA; ARGENTINA; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CHILD; ENZYME ASSAY; ENZYME DEFICIENCY; FAILURE TO THRIVE; FIBROBLAST; HUMAN; LEUKODYSTROPHY; MALE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PSYCHOMOTOR RETARDATION; URINALYSIS;

BRAIN; CARBON-CARBON LIGASES; FATAL OUTCOME; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA; NERVOUS SYSTEM DISEASES; PURINES;

EID: 18244398973     PISSN: 08857490     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1014096112916     Document Type: Article

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