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Case Reports
. 1997 Jul;20(3):383-6.
doi: 10.1023/a:1005390214391.

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

E Christensen  1 , A Ribes, C Busquets, M Pineda, M Duran, B T Poll-The, C R Greenberg, H Leffers, M Schwartz
Affiliations
Case Reports

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

E Christensen et al. J Inherit Metab Dis. 1997 Jul.
No abstract available

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References

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    1. Hum Mol Genet. 1995 Sep;4(9):1493-8 - PubMed
    1. J Pediatr. 1992 Jul;121(1):83-6 - PubMed
    1. Hum Mol Genet. 1995 Mar;4(3):493-5 - PubMed
    1. J Inherit Metab Dis. 1992;15(3):367-70 - PubMed

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