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

@article{Christensen1997CompoundHI,
  title={Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion},
  author={Ernst Christensen and A Garc{\'i}a Ribes and Christiane Busquets and Merc{\'e}des Pineda and Mutlu Duran and Bwee Tien Poll-The and Cheryl Rochman Greenberg and Henrik Christian Leffers and Marianne Schwartz},
  journal={Journal of Inherited Metabolic Disease},
  year={1997},
  volume={20},
  pages={383-386}
}
E. CHRISTENSEN1*, A. RIBES2, C. BUSQUETS2, M. PINEDA2, M. DURAN3, B. T. POLL-THE3, C. R. GREENBERG4, H. LEFFERS1 and M. SCHWARTZ1 1Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark; 2Institute de Bioquimica Clinica and Hospital Sant Joan de Deu, Barcelona, Spain; 3Wilhelmina Children’s Hospital, Utrecht, The Netherlands; 4Section of Genetics & Metabolism, University of Manitoba, Winnipeg, Canada