Irish Child Health Database - Peer Reviewed Papers
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Nervous System Diseases/diet therapy/ genetics/ physiopathology
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1. Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype
This case report discusses profound neurological presentation resulting from homozygosity - for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype
J Inherit Metab Dis, Vol: 26 Page: 72-4 2003
E. P. Treacy; A. Lee-Chong; G. Roche; B. Lynch; S. Ryan; S. Goodman



