M. Downing

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

S. E. Olpin, S. Clark, Brage Storstein Andresen et al. · Journal of Inherited Metabolic Disease · 2004 · 74 citations

Features of carnitine palmitoyltransferase type I deficiency

S. E. Olpin, Jason D. Allen, James R. Bonham et al. · Journal of Inherited Metabolic Disease · 2001 · 53 citations

Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype

S. E. Olpin, James R. Bonham, M. Downing et al. · Journal of Inherited Metabolic Disease · 1997 · 37 citations

Carnitine‐acylcarnitine Translocase Deficiency, Translational Medicine, Genetic Disorder

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

James R. Bonham, Philip A. I. Guthrie, M. Downing et al. · Journal of Inherited Metabolic Disease · 1999 · 32 citations

The Use of [9,10-3H]Myristate, [9,10-3H]Palmitate and [9,10-3H]Oleate for the Detection and Diagnosis of Medium and Long-Chain Fatty Acid Oxidation Disorders in Intact Cultured Fibroblasts

S. E. Olpin, N. J. Manning, R. J. Pollitt et al. · Kluwer Academic Publishers eBooks · 2006 · 29 citations

Lipid Analysis, Biochemistry, Lipid Nutrition +6