[Short-chain 3-ketoacyl-CoA thiolase deficiency (beta-ketothiolase deficiency)]
- PMID: 11596459
[Short-chain 3-ketoacyl-CoA thiolase deficiency (beta-ketothiolase deficiency)]
Similar articles
-
[3-ketoacyl-CoA thiolase deficiency].Nihon Rinsho. 2002 Apr;60 Suppl 4:738-42. Nihon Rinsho. 2002. PMID: 12013987 Review. Japanese. No abstract available.
-
[Medium-chain 3-ketoacyl-CoA thiolase deficiency].Ryoikibetsu Shokogun Shirizu. 2001;(36):80-2. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11596458 Review. Japanese. No abstract available.
-
Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins.Pediatr Res. 1993 May;33(5):429-32. doi: 10.1203/00006450-199305000-00001. Pediatr Res. 1993. PMID: 8099727
-
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.Hum Mutat. 1995;5(2):113-20. doi: 10.1002/humu.1380050203. Hum Mutat. 1995. PMID: 7749408 Review.
-
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.Mol Genet Metab. 2001 Feb;72(2):109-14. doi: 10.1006/mgme.2000.3113. Mol Genet Metab. 2001. PMID: 11161836
Publication types
MeSH terms
Substances
LinkOut - more resources
Medical