Associated Papers
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.
Zheng DJ et al.
Journal of Pediatric Intensive Care, 2018
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Shafqat N et al.
Journal of Inherited Metabolic Disease, 2013
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Fukao T et al.
Biochimica Et Biophysica Acta, 2011
Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Fukao T et al.
Molecular Genetics and Metabolism, 2007
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
Kassovska-Bratinova S et al.
American Journal of Human Genetics, 1996
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