2-Ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria

Neuropediatrics

Volumn 31, Issue 1, 2000, Pages 35-38

  Dunckelmann, R J ^a   Ebinger, F ^a   Schulze, A ^a   Wanders, R J A ^b   Rating, D ^a   Mayatepek, Ertan ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

2 Ketoglutarate dehydrogenase deficiency; Neurometabolic disease; Organic acids; Tricarboxylic acid cycle

Indexed keywords

2 OXOGLUTARIC ACID; OXOGLUTARATE DEHYDROGENASE;

ACIDURIA; ARTICLE; CASE REPORT; CITRIC ACID CYCLE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; MALE; MECONIUM ASPIRATION; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OPISTHOTONUS; PERINATAL ASPHYXIA; PRESCHOOL CHILD; PRIORITY JOURNAL; URINARY EXCRETION;

CELLS, CULTURED; CITRIC ACID CYCLE; DIAGNOSIS, DIFFERENTIAL; FIBROBLASTS; HUMANS; INFANT; KETOGLUTARATE DEHYDROGENASE COMPLEX; KETOGLUTARIC ACIDS; MALE; NEUROLOGIC EXAMINATION;

EID: 0034104813     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-15295     Document Type: Article

References (7)

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