Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts
- PMID: 1405470
- DOI: 10.1007/BF02435976
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts
Similar articles
-
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.J Inherit Metab Dis. 1993;16(1):46-54. doi: 10.1007/BF00711314. J Inherit Metab Dis. 1993. PMID: 8487503 Review.
-
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.J Clin Invest. 1988 Mar;81(3):813-7. doi: 10.1172/JCI113388. J Clin Invest. 1988. PMID: 2893809 Free PMC article.
-
[Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency].An Esp Pediatr. 1996 Jun;44(6):620-2. An Esp Pediatr. 1996. PMID: 8849116 Review. Spanish. No abstract available.
-
Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.Pediatr Res. 1989 Aug;26(2):145-9. doi: 10.1203/00006450-198908000-00016. Pediatr Res. 1989. PMID: 2570398
-
beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.J Inherit Metab Dis. 1996;19(5):698-9. doi: 10.1007/BF01799849. J Inherit Metab Dis. 1996. PMID: 8892029 No abstract available.
Cited by
-
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.J Inherit Metab Dis. 1993;16(1):46-54. doi: 10.1007/BF00711314. J Inherit Metab Dis. 1993. PMID: 8487503 Review.
References
MeSH terms
Substances
LinkOut - more resources
Full Text Sources