Disease: SCOT deficiency
- 'Are dynamic procedures superior to static in treating the paralytic eyelid in facial paralysis?'
- "Please see this man with a 69-year history of hypoglycaemia"
- A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency
- A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid<em>-</em>CoA transferase deficiency with <em>OXCT1</em> gene mutations
- 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 longitudinal review of Scottish reporting radiographer output between 2015 and 2019
- 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 method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2
- A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations
- A prospective analysis of micronutrient status in quiescent inflammatory bowel disease
- 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
- A systematic review of the nutritional status of adults experiencing homelessness
- Analysis of genetic diversity among common bean germplasm by start codon targeted (SCoT) markers
- Antibody deficiency
- Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2
- Blue native polyacrylamide gel electrophoresis: a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation
- Calculated free testosterone in men: comparison of four equations and with free androgen index
- Cardiomyocyte-specific deficiency of ketone body metabolism promotes accelerated pathological remodeling
- Chronically Elevating Circulating Ketones Can Reduce Cardiac Inflammation and Blunt the Development of Heart Failure
- Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
- Clinical features and respiratory complications in Myhre syndrome
- Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases
- COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux
- Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression
- Does vitamin D stop inpatients falling? A randomised controlled trial
- Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis
- Enhancing communication between foundation doctors and radiologists: a quality improvement project
- Erythrocyte selenium concentration as a marker of selenium status
- Facial symmetry in unilateral cleft lip and palate following alar base augmentation with bone graft: a three-dimensional assessment
- Four factor deficiency
- Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency
- Haemophilia and the newborn
- Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis
- Host-pathogen interactions: the role of iron
- Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene
- Immunogenicity and Efficacy of a Recombinant Human Adenovirus Type 5 Vaccine against Zika Virus
- Impact of a focussed teaching programme on practical prescribing skills among final year medical students
- Impact of peripheral ketolytic deficiency on hepatic ketogenesis and gluconeogenesis during the transition to birth
- Improving the annual monitoring rates of testosterone replacement therapy patients in primary care
- Inborn errors of ketone body utilization
- Introduction to mannan-binding lectin
- Iron incorporation and post-malaria anaemia
- Ketone body metabolism and its defects
- Ketone ester administration improves glycemia in obese mice
- Life-threatening folic acid deficiency: Diogenes syndrome in a young woman?
- Mitochondrial proteomic analysis reveals deficiencies in oxygen utilization in medullary thick ascending limb of Henle in the Dahl salt-sensitive rat
- Modulation of thioredoxin reductase-2 expression in EAhy926 cells: implications for endothelial selenoprotein hierarchy
- 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
- Morbidity of hypoglycemia in type 1 diabetes
- 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 coagulation problems
- Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency
- Neutrophil-specific granule deficiency
- No strong relationship between mannan binding lectin or plasma ficolins and chemotherapy-related infections
- Nutritional status and symptom burden in advanced non-small cell lung cancer: results of the dietetic assessment and intervention in lung cancer (DAIL) trial
- Obligate role for ketone body oxidation in neonatal metabolic homeostasis
- Pathophysiology of neonatal respiratory distress syndrome: implications for early treatment strategies
- Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis
- Pimozide Alleviates Hyperglycemia in Diet-Induced Obesity by Inhibiting Skeletal Muscle Ketone Oxidation
- Prevalence of vitamin D inadequacy in Scottish adults with non-vertebral fragility fractures
- Pyrosequencing reveals the predominance of pseudomonadaceae in gut microbiome of a gall midge
- Quantitative data on the magnitude of the systemic inflammatory response and its effect on micronutrient status based on plasma measurements
- Rapid Epidemiological Analysis of Comorbidities and Treatments as risk factors for COVID-19 in Scotland (REACT-SCOT): A population-based case-control study
- Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency
- Reconstructive complications of thrombophilia and keloid scarring: free flap surgery in a patient with mild protein S deficiency
- Reflective testing: how useful is the practice of adding on tests by laboratory clinicians?
- SCOT Deficiency - A Fatal Metabolic Disorder Treated with Peritoneal Dialysis
- Serum 25-hydroxyvitamin D in erythropoietic protoporphyria
- Severe hypercalcaemia secondary to isolated adrenocorticotrophic hormone deficiency and subacute thyroiditis
- Significant deficiencies in the overnight use of a Standardised Early Warning Scoring system in a teaching hospital
- 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
- Spontaneous bacterial peritonitis in a patient with anorexia nervosa with profound zinc and iron deficiency
- Stable bronchiectasis is associated with low serum L-ficolin concentrations
- Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation
- Successful haemopoietic stem cell transplantation does not correct mannan-binding lectin deficiency
- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism
- 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-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings
- 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
- Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency
- Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
- Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease
- The ambiguity of ethnicity as risk factor of vitamin D deficiency--a case study of Danish vitamin D policy documents
- The assessment of criterion audit cycles by external peer review - when is an audit not an audit?
- The clinical, economic, and humanistic burden of Dravet syndrome - A systematic literature review
- The face of Ulnar Mammary syndrome?
- The Mitochondrial Metallochaperone SCO1 Is Required to Sustain Expression of the High-Affinity Copper Transporter CTR1 and Preserve Copper Homeostasis
- The relationship between plasma albumin, alkaline phosphatase and pyridoxal phosphate concentrations in plasma and red cells: Implications for assessing vitamin B6 status
- The role of metabolic derangements and glucocorticoid excess in the aetiology of cognitive impairment in type 2 diabetes. Implications for future therapeutic strategies
- The role of the clinical biochemist in detection of zinc-induced copper deficiency
- Vitamin A and preterm infants: what we know, what we don't know, and what we need to know
- Vitamin A for preterm infants; where are we now?
- Vitamin D deficiency in outpatients:--a Scottish perspective
- 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
- Zinc supplementation in intensive care: results of a UK survey