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3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: Report of five new patients

✍ Scribed by K. M. Gibson; J. Breuer; K. Kaiser; W. L. Nyhan; E. E. McCoy; P. Ferreira; C. L. Greene; M. G. Blitzer; E. Shapira; F. Reverte; C. Conde; P. Bagnell; D. E. C. Cole


Publisher
Springer
Year
1988
Tongue
English
Weight
798 KB
Volume
11
Category
Article
ISSN
0141-8955

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3-hydroxy-3-methylglutaryl-coenzyme A ly
✍ K. M. Gibson; J. Breuer; W. L. Nyhan πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 714 KB

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of leucine catabolism which often leads to life-threatening illness in the neonatal period. The cardinal clinical features include severe infantile hypoglycemia, metabolic acidosis, hepatomegaly, lethargy or co