George Grahame

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Suzanne D. DeBrosse, Kazuki Okajima, Shulin Zhang et al. · Molecular Genetics and Metabolism · 2012 · 117 citations

Life Sciences, Neurology, Neuroscience +14

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

David R. Adams, Hongjie Yuan, Todd Holyoak et al. · Molecular Genetics and Metabolism · 2014 · 65 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +10

Succinyl-CoA synthetase ( SUCLA2 ) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Xiaoping Huang, Jirair K. Bedoyan, Didem Demirbas et al. · Molecular Genetics and Metabolism · 2016 · 25 citations

Life Sciences, Biochemistry, Molecular Biology +17

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency

Ha Kyung Shin, George Grahame, Shawn E. McCandless et al. · Molecular Genetics and Metabolism · 2017 · 20 citations · Full text

Life Sciences, Biochemistry, Enzymology +13

Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity

Douglas S. Kerr, George Grahame, Ghunwa Nakouzi · Methods in molecular biology · 2011 · 17 citations

Life Sciences, Biochemistry, Molecular Biology +14