Hasil Pencarian - Gregory M. Enns

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  1. 1
    Advances in Mitochondrial Medicine

    Advances in Mitochondrial Medicine oleh Gregory M. Enns MB, ChB

    Diterbitkan 2018-01-01
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  2. 2
    Clinical Trials in Mitochondrial Disease

    Clinical Trials in Mitochondrial Disease oleh Gregory M. Enns MB, ChB, Bruce H. Cohen MD

    Diterbitkan 2017-10-01
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  3. 3
    Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

    Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency oleh Anna-Kaisa Niemi, Candida Brown, Tereza Moore, Gregory M. Enns, Tina M. Cowan

    Diterbitkan 2014-01-01
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  4. 4
    Reducing False-Positive Results in Newborn Screening Using Machine Learning

    Reducing False-Positive Results in Newborn Screening Using Machine Learning oleh Gang Peng, Yishuo Tang, Tina M. Cowan, Gregory M. Enns, Hongyu Zhao, Curt Scharfe

    Diterbitkan 2020-03-01
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  5. 5
    AMP-independent activator of AMPK for treatment of mitochondrial disorders.

    AMP-independent activator of AMPK for treatment of mitochondrial disorders. oleh Tereza Moore, Rolando E Yanes, Melissa A Calton, Douglas Vollrath, Gregory M Enns, Tina M Cowan

    Diterbitkan 2020-01-01
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  6. 6
    Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

    Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2 oleh J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee

    Diterbitkan 2021-06-01
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  7. 7
    Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialResearch in context

    Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialResearch in context oleh Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S. Sloan, George A. Diaz, Gregory M. Enns

    Diterbitkan 2024-02-01
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  8. 8
    Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization

    Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization oleh Michelle F. Huffaker, Anne Y. Liu, Gregory M. Enns, Suresh Vijay, Antonio J. Amor, N. Franklin Adkinson Jr

    Diterbitkan 2019-09-01
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  9. 9
    Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.

    Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status. oleh Gregory M Enns, Tereza Moore, Anthony Le, Kondala Atkuri, Monisha K Shah, Kristina Cusmano-Ozog, Anna-Kaisa Niemi, Tina M Cowan

    Diterbitkan 2014-01-01
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  10. 10
    A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

    A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. oleh Laurie H Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang

    Diterbitkan 2011-01-01
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  11. 11
    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients oleh Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

    Diterbitkan 2020-01-01
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  12. 12
    Mapping gene associations in human mitochondria using clinical disease phenotypes.

    Mapping gene associations in human mitochondria using clinical disease phenotypes. oleh Curt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, Edward A Allen, Guan-Cheng Li, Thomas Klopstock, Tina M Cowan, Gregory M Enns, Ronald W Davis

    Diterbitkan 2009-04-01
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  13. 13
    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. oleh Amanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, Janet J Mei, Steve Sideris, Yuko Kosaka, Andrew Hinman, Stephanie A Malone, Joel J Bruegger, Leslie Wang, Virna Kim, William D Shrader, Kevin G Hoff, Joey C Latham, Euan A Ashley, Matthew T Wheeler, Enrico Bertini, Rosalba Carrozzo, Diego Martinelli, Carlo Dionisi-Vici, Kimberly A Chapman, Gregory M Enns, William Gahl, Lynne Wolfe, Russell P Saneto, Simon C Johnson, Jeffrey K Trimmer, Matthew B Klein, Charles R Holst

    Diterbitkan 2019-01-01
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  14. 14
    Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

    Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis oleh Natalia Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer L. Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore

    Diterbitkan 2016-02-01
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