Disease: Succinyl-CoA acetoacetate transferase deficiency
- A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the <em>OXCT1</em> Gene
- A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene
- A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene
- A new case of succinyl-CoA: acetoacetate transferase deficiency
- A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity
- A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations
- A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous <em>OXCT1</em> Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency
- A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
- Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
- Decreased rate of ketone-body oxidation and decreased activity of D-3-hydroxybutyrate dehydrogenase and succinyl-CoA:3-oxo-acid CoA-transferase in heart mitochondria of diabetic rats
- Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency
- Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
- Hyperketotic states due to inherited defects of ketolysis
- Inborn errors of ketone body utilization
- Influence of ketone bodies on oxidative stress parameters in brain of developing rats in vitro
- Ketone body metabolism and its defects
- Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts
- Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability
- Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variability
- Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency
- Obligate role for ketone body oxidation in neonatal metabolic homeostasis
- Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency
- SCOT Deficiency - A Fatal Metabolic Disorder Treated with Peritoneal Dialysis
- Structure of the mammalian CoA transferase from pig heart
- Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient
- Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report
- Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease
- Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature
- Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies
- Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts
- When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria