G. Grahame

Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity.

D. Kerr, Ghunwa Nakouzi, G. Grahame, 2012, Methods in molecular biology.

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

D. Kerr, D. Harris, C. Hoppel, 2017, Molecular genetics and metabolism.

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

D. Kerr, Ghunwa Nakouzi, C. Schmotzer, 2012, Molecular genetics and metabolism.

Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.

A. Gropman, G. Grahame, J. Bedoyan, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

K. F. Fajardo, J. Snyder, D. Kerr, 2014, Molecular genetics and metabolism.

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

D. Kerr, G. Grahame, J. Bedoyan, 2014, Molecular genetics and metabolism reports.

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

D. Kerr, A. Bergin, C. Hoppel, 2019, JIMD reports.

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

D. Kerr, G. Grahame, J. Bedoyan, 2017, Molecular Genetics and Metabolism.

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

S. Ferdinandusse, R. Wanders, D. Kerr, 2017, Molecular genetics and metabolism.