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American Journal of Human Genetics|August 1, 1991
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha geneK Chun, N MacKay, R Petrova-Benedict, et al.
Human Molecular Genetics|April 1, 1993
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complexK Chun, N MacKay, R Petrova-Benedict, et al.
The Journal of Pediatrics|October 1, 1987
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complexB H Robinson, H MacMillan, R Petrova-Benedict, et al.
Biochemical Medicine and Metabolic Biology|October 1, 1992
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblastsB H Robinson, R Petrova-Benedict, J R Buncic, et al.
European Journal of Pediatrics|February 1, 1986
Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzymeN McKay, R Petrova-Benedict, J Thoene, et al.
European Journal of Pediatrics|May 1, 1993
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiencyJ Christodoulou, R Petrova-Benedict, B H Robinson, et al.
American Journal of Human Genetics|March 1, 1987
Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusingR Petrova-Benedict, B H Robinson, T E Stacey, et al.
The Journal of Clinical Investigation|June 1, 1990
Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemiaB H Robinson, N MacKay, R Petrova-Benedict, et al.
Pediatric Research|November 1, 1990
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemiaB H Robinson, D M Glerum, W Chow, et al.
American Journal of Human Genetics|March 1, 1995
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complexK Chun, N MacKay, R Petrova-Benedict, et al.
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