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George Grahame

Showing results (1-10 of 7) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|January 5, 2012
Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activityDouglas Kerr, George Grahame, Ghunwa Nakouzi
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 16, 2021
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote motherKuntal Sen, George Grahame, Jirair K Bedoyan, et al.
Molecular Genetics and Metabolism|September 18, 2017
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiencyHa Kyung Shin, George Grahame, Shawn E McCandless, et al.
Molecular Genetics and Metabolism|October 2, 2012
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotypeSuzanne D DeBrosse, Kazuki Okajima, Shulin Zhang, et al.
Molecular Genetics and Metabolism|February 17, 2017
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiencyJirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Methods in Molecular Biology (Clifton, N.J.)|January 5, 2012
Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activityDouglas Kerr, George Grahame, Ghunwa Nakouzi
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 16, 2021
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote motherKuntal Sen, George Grahame, Jirair K Bedoyan, et al.
Molecular Genetics and Metabolism|September 18, 2017
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiencyHa Kyung Shin, George Grahame, Shawn E McCandless, et al.
Molecular Genetics and Metabolism|October 2, 2012
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotypeSuzanne D DeBrosse, Kazuki Okajima, Shulin Zhang, et al.
Molecular Genetics and Metabolism|February 17, 2017
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiencyJirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
Pageof 1