3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Biochemical studies and family investigation of four generations
β Scribed by V. Barash; H. Mandel; S. Sella; R. Geiger
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 547 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
We have examined the amino terminal membrane anchoring domain of Arabidopsis thaliana 3-hydroxy-3-methylglutaryl coenzyme A reductase (Hmg1p), a key enzyme of the isoprenoid biosynthetic pathway. Using both in vitro and in vivo approaches, we have analyzed a series of recombinant derivatives to iden