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注意:仅列出部分参考文献,下载原文获取全部文献信息。Inborn errors of ketogenesis and ketone body utilization
Joern Oliver Sass
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
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Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene
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Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA transferase (SCOT) do not show permanent ketosis
T Fukao et al.
PEDIATRIC RESEARCH (2004)
Coot:: model-building tools for molecular graphics
P Emsley et al.
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Succinyl-CoA : 3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
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Structure of the mammalian CoA transferase from pig heart
KS Bateman et al.
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Cloning and characterization of a human orthologue of testis-specific succinyl CoA: 3-oxo acid CoA transferase (Scot-t) cDNA
H Tanaka et al.
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A new family of CoA-transferases
J Heider
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Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency
GT Berry et al.
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ARP/wARP and molecular replacement
A Perrakis et al.
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Succinyl-CoA:3-ketoacid CoA transferase (SCOT):: Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations
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