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Gregory M Enns

Showing results (81-90 of 135) with videos related to

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Molecular Genetics and Metabolism|October 23, 2012
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial diseaseFrancis G Blankenberg, Stephen L Kinsman, Bruce H Cohen, et al.
Molecular Genetics and Metabolism|April 16, 2013
Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathiesAnna Pastore, Sara Petrillo, Giulia Tozzi, et al.
The Journal of Pediatrics|December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismIsabelle R Miousse, David Watkins, David Coelho, et al.
Pediatrics|October 18, 2006
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)Joseph T C Shieh, Petra Swidler, John A Martignetti, et al.
European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2014
Clinical whole-exome sequencing: are we there yet?Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.
The Journal of Pediatrics|November 1, 2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic originsGregory M Enns, Robert D Steiner, Neil Buist, et al.
Bioorganic & Medicinal Chemistry Letters|May 24, 2011
α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of agingWilliam D Shrader, Akiko Amagata, Adam Barnes, et al.
Molecular Genetics and Metabolism|November 26, 2011
Initial experience in the treatment of inherited mitochondrial disease with EPI-743Gregory M Enns, Stephen L Kinsman, Susan L Perlman, et al.
The Journal of Pediatrics|November 13, 2016
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born PrematureKarl G Sylvester, Zachary J Kastenberg, R Larry Moss, et al.
Pageof 14

Showing results (81-90 of 135) with videos related to

Sort By:
Pageof 14
Molecular Genetics and Metabolism|October 23, 2012
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial diseaseFrancis G Blankenberg, Stephen L Kinsman, Bruce H Cohen, et al.
Molecular Genetics and Metabolism|April 16, 2013
Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathiesAnna Pastore, Sara Petrillo, Giulia Tozzi, et al.
The Journal of Pediatrics|December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismIsabelle R Miousse, David Watkins, David Coelho, et al.
Pediatrics|October 18, 2006
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)Joseph T C Shieh, Petra Swidler, John A Martignetti, et al.
European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2014
Clinical whole-exome sequencing: are we there yet?Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.
The Journal of Pediatrics|November 1, 2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic originsGregory M Enns, Robert D Steiner, Neil Buist, et al.
Bioorganic & Medicinal Chemistry Letters|May 24, 2011
α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of agingWilliam D Shrader, Akiko Amagata, Adam Barnes, et al.
Molecular Genetics and Metabolism|November 26, 2011
Initial experience in the treatment of inherited mitochondrial disease with EPI-743Gregory M Enns, Stephen L Kinsman, Susan L Perlman, et al.
The Journal of Pediatrics|November 13, 2016
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born PrematureKarl G Sylvester, Zachary J Kastenberg, R Larry Moss, et al.
Pageof 14