Morteza Pourfarzam

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, S. E. Olpin, Brage Storstein Andresen et al. · Brain · 2007 · 326 citations

Metabolic Disorder, Genetics, Molecular Biology +25

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics · 1999 · 300 citations · Full text

Genetic Diseases, Disease Phenotype, Genetic Determinant +10

Combined enzyme defect of mitochondrial fatty acid oxidation.

Sandra L. Jackson, Rajinder Singh Kler, K. Bartlett et al. · Journal of Clinical Investigation · 1992 · 128 citations · Full text

Recurrent Episodes, Energy Metabolism, Enzyme Defect +11

Very long‐chain acyl coenzyme A dehydrogenase deficiency presenting with exercise‐induced myoglobinuria

Isla Ogilvie, Morteza Pourfarzam, Sandra L. Jackson et al. · Neurology · 1994 · 109 citations

Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.

Rajinder Singh Kler, Sandra L. Jackson, K. Bartlett et al. · Journal of Biological Chemistry · 1991 · 89 citations · Full text