Associated Papers
Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.
Heathfield LJ et al.
International Journal of Legal Medicine, 2024
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Ketone body metabolism and its defects.
Fukao T et al.
Journal of Inherited Metabolic Disease, 2014
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
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.
Fukao T et al.
Journal of Inherited Metabolic Disease, 2010
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
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.
Fukao T et al.
Pediatric Research, 2004
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
Song XQ et al.
Human Mutation, 1998
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