Glutaric acidemia (type I)

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 2, Issue 3, 1996, Pages 155-159

  Goodman, Stephen L ^a,b   Biery, Barbara J ^b  

^a Children's Hospital Colorado   (United States)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

Glutamate; Glutaryl CoA dehydrogenase mutations; Inborn errors; Quinolinic acid; Striatal degeneration

Indexed keywords

EID: 0001010412     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-2779(1996)2:3<155::aid-mrdd6>3.0.co;2-r     Document Type: Article

References (23)

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12. Greenberg CR, Duncan AMV, Gregory CA et al. (1994): Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics 21:289-290.
13. Greenberg CR, Reimer D, Singal R et al. (1995): A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet 4:493-495.
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