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Case Reports

. 1988;11(1):76-87.

doi: 10.1007/BF01800058.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients

K M Gibson¹, J Breuer, K Kaiser, W L Nyhan, E E McCoy, P Ferreira, C L Greene, M G Blitzer, E Shapira, F Reverte, et al.

Affiliations

PMID: 3128690
DOI: 10.1007/BF01800058

Case Reports

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients

K M Gibson et al. J Inherit Metab Dis. 1988.

. 1988;11(1):76-87.

doi: 10.1007/BF01800058.

Authors

K M Gibson¹, J Breuer, K Kaiser, W L Nyhan, E E McCoy, P Ferreira, C L Greene, M G Blitzer, E Shapira, F Reverte, et al.

Affiliation

¹ Department of Pediatrics, University of California, San Diego, La Jolla 92093.

PMID: 3128690
DOI: 10.1007/BF01800058

Abstract

Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.

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References

1. Clin Chim Acta. 1977 May 2;76(3):321-8 - PubMed
1. Pediatr Res. 1987 Feb;21(2):211-3 - PubMed
1. Ann Neurol. 1986 Sep;20(3):367-9 - PubMed
1. J Pediatr. 1981 Aug;99(2):279-80 - PubMed
1. Eur J Pediatr. 1985 Jul;144(2):177-81 - PubMed

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