Roumyana Petrova-Benedict

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 484 citations

Nonviability of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts

B. H. Robinson, Roumyana Petrova-Benedict, J. Raymond Buncic et al. · Biochemical Medicine and Metabolic Biology · 1992 · 271 citations

Fibrosis, Screening Test, Lipid Peroxidation +9

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

Brian H. Robinson, Harriet L. MacMillan, Roumyana Petrova-Benedict et al. · The Journal of Pediatrics · 1987 · 178 citations

Aldehyde Dehydrogenase, Biochemistry, Physiology +7

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

Frank Merante, Roumyana Petrova-Benedict, N. MacKay et al. · PubMed · 1993 · 106 citations

The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia

Brian H. Robinson, D. Moira Glerum, Wendy Chow et al. · Pediatric Research · 1990 · 98 citations · Full text

Pathology, Respiratory Chain Defects, Skin Fibroblast Cultures +5