Effect of Exercise on Protein Turnover in Man

Michael J. Rennie, R. H. T. Edwards, S. Krywawych, +4

Clinical Science

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion

Peter T. Clayton, Simon Eaton, A Aynsley‐Green, +7

Journal of Clinical Investigation

Metabolic DisorderHuman GrowthPathologyInsulin SignalingOxidative Stress +20

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion

Peter T. Clayton, Simon Eaton, A Aynsley‐Green, +7

Journal of Clinical Investigation

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

Ference J. Loupatty, Peter T. Clayton, Jos P.N. Ruiter, +10

The American Journal of Human Genetics

Neurodegenerative DiseasesMendelian DisorderGenetic DisorderGeneticsProgressive Infantile Neurodegeneration +6

Homozygous thermolabile variant of the methylenetetrahy-drofolate reductase gene: a potential risk factor for hyperhomo-cysteinaemia, CVD, and stroke in childhood

Mara Prengler, Natalie Sturt, S. Krywawych, +3

Developmental Medicine & Child Neurology

Metabolic DisorderMethylenetetrahy-drofolate Reductase GeneGeneticsGenetic EpidemiologyPathology +26

Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase

S.K. Wadman, M. Durán, F. A. Beemer, +10

Journal of Inherited Metabolic Disease

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene

Khalid Hussain, Peter T. Clayton, S. Krywawych, +6

The Journal of Pediatrics

Developmental AnomalyDevelopmental BiologySomatic VariantSchad GeneGenetic Disorder +6

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: Prevalence, predictive value and test validity based on 1.5 million screened babies

J Oerton, Javaria Mona Khalid, G. T. N. Besley, +8

Journal of Medical Screening

TPL-2–Mediated Activation of MAPK Downstream of TLR4 Signaling Is Coupled to Arginine Availability

Virginie Mieulet, Lijun Yan, Caroline Choisy, +8

Science Signaling

Successful reversal of propionic acidaemia associated cardiomyopathy: Evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism

Julien Baruteau, Iain P. Hargreaves, S. Krywawych, +10

Mitochondrion

Cardiac MuscleCardiomyopathyHeart FailureCardiovascular DiseaseMitochondrial Function +9