Výsledky vyhledávání - Enns, Gregory M

Advances in Mitochondrial Medicine Autor Enns, Gregory M. Enns

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

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

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

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

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

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

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

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

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

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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 Autor Morales, J. Andres, Tise, Christina G., Narang, Amrita, Grimm, Paul C., Enns, Gregory M., Lee, Chung U.

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

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

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Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status Autor Enns, Gregory M., Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K., Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M.

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

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A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability Autor Seaver, Laurie H., He, Xue-Ying, Abe, Keith, Cowan, Tina, Enns, Gregory M., Sweetman, Lawrence, Philipp, Manfred, Lee, Sansan, Malik, Mazhar, Yang, Song-Yu

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

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High-quality DNA sequence capture of 524 disease candidate genes Autor 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

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A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network Autor 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.

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Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients Autor 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

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