Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): Advances and unanswered questions. Report from an international meeting

European Journal of Pediatrics

Volumn 156, Issue 11, 1997, Pages 821-828

  Superti Furga, A ^a   Hoffmann, G F ^b  

^a Universitats Kinderklinik   (Switzerland)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Carnitine; Dystonia; Glutaric aciduria; Glutaryl CoA dehydrogenase; Neurometabolic disease

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; TRYPTOPHAN;

ACIDURIA; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN ATROPHY; BRAIN NECROSIS; BRAIN TOXICITY; CEREBROSPINAL FLUID; CHROMOSOME 19; DETERIORATION; DYSTONIA; ENCEPHALITIS; ENZYME DEFICIENCY; GLUTARIC ACIDURIA TYPE 1; HUMAN; INFANT; MACROCEPHALY; NEWBORN SCREENING; PRIORITY JOURNAL; REVIEW;

EID: 0030781348     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050721     Document Type: Review

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