検索結果 - Enns, Gregory M.

Advances in Mitochondrial Medicine 著者: Enns, Gregory M. Enns

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

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

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Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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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