Glutaryl-CoA Dehydrogenase Deficiency: Region-Specific Analysis of Organic Acids and Acylcarnitines in post mortem Brain Predicts Vulnerability of the Putamen

Neuropediatrics

Volumn 34, Issue 5, 2003, Pages 253-260

  Kolker S ^a   Hoffmann, Georg F ^a   Schor, D S M ^b   Feyh, P ^a   Wagner, L ^c   Jeffrey, I ^d   Pourfarzam, M ^e   Okun, J G ^a   Zschocke, J ^a   Baric, I ^f   Bain, M D ^g   Jakobs, C ^b   Chalmers, R A ^g  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c University Children's Hospital   (Germany)

^d ST GEORGE S HOSPITAL   (United Kingdom)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f KBC Zagreb   (Croatia)

^g ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Acylcarnitines; Glutaryl CoA dehydrogenase; Organic acids; Putamen

Indexed keywords

3 HYDROXYGLUTARIC ACID; ACYLCARNITINE; CARBOXYLIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; GLUTARYLCARNITINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOPSY; BLOOD LEVEL; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; MALE; NEUROPATHOLOGY; PREDICTION; PRIORITY JOURNAL; PUTAMEN; TANDEM MASS SPECTROMETRY; TISSUE LEVEL; URINE LEVEL;

ACIDOSIS; ACUTE DISEASE; ADOLESCENT; ANTICONVULSANTS; ATROPHY; BRAIN; CARNITINE; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENE EXPRESSION; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; MALE; MUSCLE HYPOTONIA; N-METHYLASPARTATE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POINT MUTATION; PUTAMEN; SPASM; VIGABATRIN;

EID: 10744221860     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-43261     Document Type: Article

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