Search Results - Enns, Gregory M.

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  1. 1
    Advances in Mitochondrial Medicine

    Advances in Mitochondrial Medicine by Enns, Gregory M. Enns

    Published 2019
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  2. 2
    Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy

    Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy by Enns, Gregory M., Cowan, Tina M.

    Published 2017
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  3. 3
    Clinical Trials in Mitochondrial Disease: An Update on EPI-743 and RP103

    Clinical Trials in Mitochondrial Disease: An Update on EPI-743 and RP103 by Enns, Gregory M., Cohen, Bruce H.

    Published 2019
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  4. 4
    Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency

    Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency by Mahapatra, Sidharth, Ananth, Amitha, Baugh, Nancy, Damian, Mihaela, Enns, Gregory M.

    Published 2017
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  5. 5
    Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

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

    Published 2014
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  6. 6
    Reducing False-Positive Results in Newborn Screening Using Machine Learning

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

    Published 2020
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  7. 7
    Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns

    Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns by Peng, Gang, de Fontnouvelle, Christina A., Enns, Gregory M., Cowan, Tina M., Zhao, Hongyu, Scharfe, Curt

    Published 2018
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  8. 8
    Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes

    Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes by Peng, Gang, Tang, Yishuo, Gandotra, Neeru, Enns, Gregory M., Cowan, Tina M., Zhao, Hongyu, Scharfe, Curt

    Published 2020
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  9. 9
    AMP-independent activator of AMPK for treatment of mitochondrial disorders

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

    Published 2020
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  10. 10
    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 by Huffaker, Michelle F., Liu, Anne Y., Enns, Gregory M., Vijay, Suresh, Amor, Antonio J., Adkinson, N. Franklin

    Published 2019
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  11. 11
    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 by Morales, J. Andres, Tise, Christina G., Narang, Amrita, Grimm, Paul C., Enns, Gregory M., Lee, Chung U.

    Published 2021
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  12. 12
    Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

    Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia by Atkuri, Kondala R., Cowan, Tina M., Kwan, Tony, Ng, Angelina, Herzenberg, Leonard A., Herzenberg, Leonore A., Enns, Gregory M.

    Published 2009
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  13. 13
    Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v(2) band of ammonia near 10.4 μm

    Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v(2) band of ammonia near 10.4 μm by Sur, Ritobrata, Spearrin, R. Mitchell, Peng, Wen Y., Strand, Christopher L., Jeffries, Jay B., Enns, Gregory M., Hanson, Ronald K.

    Published 2016
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  14. 14
    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 by Enns, Gregory M., Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K., Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M.

    Published 2014
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  15. 15
    A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts

    A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts by He, Ping, Grotzke, Jeff E, Ng, Bobby G, Gunel, Murat, Jafar-Nejad, Hamed, Cresswell, Peter, Enns, Gregory M, Freeze, Hudson H

    Published 2015
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  16. 16
    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 by Seaver, Laurie H., He, Xue-Ying, Abe, Keith, Cowan, Tina, Enns, Gregory M., Sweetman, Lawrence, Philipp, Manfred, Lee, Sansan, Malik, Mazhar, Yang, Song-Yu

    Published 2011
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  17. 17
    The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease

    The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease by Ji, Marco H., Kreymerman, Alexander, Belle, Kinsley, Ghiam, Benjamin K., Muscat, Stephanie R., Mahajan, Vinit B., Enns, Gregory M., Mercola, Mark, Wood, Edward H.

    Published 2021
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  18. 18
    High-quality DNA sequence capture of 524 disease candidate genes

    High-quality DNA sequence capture of 524 disease candidate genes by Shen, Peidong, Wang, Wenyi, Krishnakumar, Sujatha, Palm, Curtis, Chi, Aung-Kyaw, Enns, Gregory M., Davis, Ronald W., Speed, Terence P., Mindrinos, Michael N., Scharfe, Curt

    Published 2011
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  19. 19
    A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

    A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network by Reuter, Chloe M., Brimble, Elise, DeFilippo, Colette, Dries, Annika M., Enns, Gregory M., Ashley, Euan A., Bernstein, Jonathan A., Fisher, Paul Graham, Wheeler, Matthew T.

    Published 2018
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  20. 20
    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 by Moravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, Mercimek‐Andrews, Saadet, Witters, Peter, Morava, Eva

    Published 2019
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