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Gregory M Enns

Showing results (31-40 of 135) with videos related to

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Mitochondrion|October 11, 2011
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucineRachel Cox, Julia Platt, Li Chieh Chen, et al.
Pediatric Neurology|January 17, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolismClaudia Soler-Alfonso, Gregory M Enns, Mary Kay Koenig, et al.
Molecular Genetics and Metabolism|October 9, 2021
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotypeGregory M Enns, Zineb Ammous, Ryan W Himes, et al.
Molecular Genetics and Metabolism Reports|October 20, 2025
Carbonic anhydrase VA deficiency due to a novel <i>CA5A</i> variantLaura Keehan, Elizabeth Null, Lekha Chilakamarri, et al.
Plos One|October 14, 2020
AMP-independent activator of AMPK for treatment of mitochondrial disordersTereza Moore, Rolando E Yanes, Melissa A Calton, et al.
Pediatric Transplantation|March 5, 2023
Outcomes after liver transplantation in MPV17 deficiency: A rebuttalAlice C Huang, Noelle H Ebel, Danielle Romero, et al.
Molecular Genetics and Metabolism|November 19, 2018
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newbornsGang Peng, Christina A de Fontnouvelle, Gregory M Enns, et al.
Journal of Inherited Metabolic Disease|March 28, 2020
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomesGang Peng, Yishuo Tang, Neeru Gandotra, et al.
Metabolic Brain Disease|March 13, 2026
Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative reviewLaura Konczal, Gregory M Enns, Andrea L Gropman, et al.
Journal of Inherited Metabolic Disease|January 21, 2023
Validation of a targeted metabolomics panel for improved second-tier newborn screeningJustin Mak, Gang Peng, Anthony Le, et al.
Pageof 14

Showing results (31-40 of 135) with videos related to

Sort By:
Pageof 14
Mitochondrion|October 11, 2011
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucineRachel Cox, Julia Platt, Li Chieh Chen, et al.
Pediatric Neurology|January 17, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolismClaudia Soler-Alfonso, Gregory M Enns, Mary Kay Koenig, et al.
Molecular Genetics and Metabolism|October 9, 2021
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotypeGregory M Enns, Zineb Ammous, Ryan W Himes, et al.
Molecular Genetics and Metabolism Reports|October 20, 2025
Carbonic anhydrase VA deficiency due to a novel <i>CA5A</i> variantLaura Keehan, Elizabeth Null, Lekha Chilakamarri, et al.
Plos One|October 14, 2020
AMP-independent activator of AMPK for treatment of mitochondrial disordersTereza Moore, Rolando E Yanes, Melissa A Calton, et al.
Pediatric Transplantation|March 5, 2023
Outcomes after liver transplantation in MPV17 deficiency: A rebuttalAlice C Huang, Noelle H Ebel, Danielle Romero, et al.
Molecular Genetics and Metabolism|November 19, 2018
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newbornsGang Peng, Christina A de Fontnouvelle, Gregory M Enns, et al.
Journal of Inherited Metabolic Disease|March 28, 2020
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomesGang Peng, Yishuo Tang, Neeru Gandotra, et al.
Metabolic Brain Disease|March 13, 2026
Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative reviewLaura Konczal, Gregory M Enns, Andrea L Gropman, et al.
Journal of Inherited Metabolic Disease|January 21, 2023
Validation of a targeted metabolomics panel for improved second-tier newborn screeningJustin Mak, Gang Peng, Anthony Le, et al.
Pageof 14