Phytosterolemia in children with parenteral nutrition—Associated cholestatic liver disease

Peter T. Clayton, Ann Bowron, Kevin Mills, +3

Gastroenterology

NutritionHepatologyBiliary TractInfant NutritionClinical Nutrition +9

C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentration in different European populations

Vilmundur Guðnason, D. Stansbie, J. Blake Scott, +3

Atherosclerosis

BiochemistryThermolabile Alanine/valineGeneticsMethylenetetrahydrofolate ReductaseGenetic Epidemiology +6

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

Keith Hyland, Robert Surtees, Simon Heales, +3

Pediatric Research

Pediatric Reference PopulationNeurophysiologyCerebrospinal FluidPsychopharmacologyCerebrospinal Fluid Concentrations +7

Cerebrospinal Fluid and Plasma Total Homocysteine and Related Metabolites in Children with Cystathionine β-Synthase Deficiency: The Effect of Treatment

Robert Surtees, Donald Y.M. Leung, Ann Bowron, +1

Pediatric Research

MedicineCerebrospinal FluidInherited Metabolic DiseasePlasma Total HomocysteineNeurology +2

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Ann Bowron, J. Honeychurch, Maggie Williams, +7

Journal of Inherited Metabolic Disease

A case of malignant hyperlactaemic acidosis appearing upon treatment with the mono-carboxylase transporter 1 inhibitor AZD3965

Rosie McNeillis, Alastair Greystoke, Jon Walton, +9

British Journal of Cancer

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Roberto Angelini, Simona Lobasso, Ruggiero Gorgoglione, +3

Journal of Lipid Research

Association of Cerebrospinal Fluid Deficiency of 5-Methyltetrahydrofolate, but Not <i>S</i>-Adenosylmethionine, with Reduced Concentrations of the Acid Metabolites of 5-Hydroxytryptamine and Dopamine

Robert Surtees, Simon Heales, Ann Bowron

Clinical Science

Cerebrospinal Fluid DeficiencyFolate DeficiencyHealth SciencesNeurophysiologyMedicine +12

Diagnosis of Barth syndrome using a novel LC‐MS/MS method for leukocyte cardiolipin analysis

Ann Bowron, R. Wayne Frost, Vicki E. C. Powers, +3

Journal of Inherited Metabolic Disease

Blood Spot Homocysteine: A Feasibility and Stability Study

Ann Bowron, Anna Barton, J. Blake Scott, +1

Clinical Chemistry

Low Methionine ConcentrationsSecondary HypermethioninemiaMedicineBioanalysisHematology +11