檢索結果 - Gregory M. Enns

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  1. 1
    Advances in Mitochondrial Medicine

    Advances in Mitochondrial Medicine 由 Enns, Gregory M. Enns

    出版 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 由 Gregory M. Enns, Tina M. Cowan

    出版 2017
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  3. 3
    Reducing False-Positive Results in Newborn Screening Using Machine Learning

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

    出版 2020
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  4. 4
    Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?

    Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype? 由 Gregory M. Enns, Elizabeth Roeder, Ruth T. Chan, Zohra Ali‐Khan Catts, Victoria Cox, Mahin Golabi

    出版 1999
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  5. 5
    Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

    Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders 由 Gregory M. Enns, Susan A. Berry, Gerard T. Berry, William J. Rhead, Saul W. Brusilow, Ada Hamosh

    出版 2007
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  6. 6
    Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

    Long-term safety and efficacy of sapropterin: The PKUDOS registry experience 由 Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Fıçıcıoğlu, Susan Parker, Jessica Cohen‐Pfeffer

    出版 2015
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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 trial

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

    出版 2024
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  8. 8
    Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

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

    出版 2009
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  9. 9
    A congenital disorder of deglycosylation: Biochemical characterization of<i>N</i>-glycanase 1 deficiency in patient fibroblasts

    A congenital disorder of deglycosylation: Biochemical characterization of<i>N</i>-glycanase 1 deficiency in patient fibroblasts 由 Ping He, Jeff E. Grotzke, Bobby G. Ng, Murat Günel, Hamed Jafar‐Nejad, Peter Cresswell, Gregory M. Enns, Hudson H. Freeze

    出版 2015
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  10. 10
    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 由 Gregory M. Enns, Tereza Moore, Anthony Le, Kondala R. Atkuri, M. K. SHAH, Kristina Cusmano‐Ozog, Anna‐Kaisa Niemi, Tina M. Cowan

    出版 2014
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  11. 11
    High-quality DNA sequence capture of 524 disease candidate genes

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

    出版 2011
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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 由 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

    出版 2009
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  13. 13
    Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

    Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia 由 Gang Peng, Peidong Shen, Neeru Gandotra, Anthony Le, Eula Fung, Laura L. Jelliffe‐Pawlowski, Ronald W. Davis, Gregory M. Enns, Hongyu Zhao, Tina M. Cowan, Curt Scharfe

    出版 2018
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  14. 14
    Clinical whole-exome sequencing: are we there yet?

    Clinical whole-exome sequencing: are we there yet? 由 Paldeep S. Atwal, Marie-Louise Brennan, Rachel Cox, Michael Niaki, Julia Platt, Margaret Homeyer, Andrea Kwan, Sylvie Parkin, Susan Schelley, Leah Slattery, Yael Wilnai, Jonathan A. Bernstein, Gregory M. Enns, Louanne Hudgins

    出版 2014
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  15. 15
    Initial experience in the treatment of inherited mitochondrial disease with EPI-743

    Initial experience in the treatment of inherited mitochondrial disease with EPI-743 由 Gregory M. Enns, Stephen L. Kinsman, Susan Perlman, Kenneth Spicer, José E. Abdenur, Bruce H. Cohen, Akiko Amagata, Adam Barnes, Viktoria Kheifets, William D. Shrader, Martin Thoolen, Francis G. Blankenberg, Guy Miller

    出版 2011
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  16. 16
    Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature

    Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature 由 Karl G. Sylvester, Zachary J. Kastenberg, R.L. Moss, Gregory M. Enns, Tina M. Cowan, Gary M. Shaw, David K. Stevenson, Tiffany J. Sinclair, Curt Scharfe, Kelli K. Ryckman, Laura L. Jelliffe‐Pawlowski

    出版 2016
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  17. 17
    Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

    Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders 由 Jerry Vockley, Joel Charrow, J Ganesh, Marthand S. Eswara, George A. Díaz, Elizabeth McCracken, Robert L. Conway, Gregory M. Enns, Joanne P. Starr, R. Wang, José E. Abdenur, Joan Sánchez-de-Toledo, Deborah Marsden

    出版 2016
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  18. 18
    Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease

    Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease 由 Manisha Balwani, Catherine Breen, Gregory M. Enns, Patrick Deegan, Tomáš Honzík, Simon Jones, John P. Kane, Vĕra Malinová, Reena Sharma, Eveline O. Stock, Vassili Valayannopoulos, Ed Wraith, Jennifer M. Burg, Stephen Eckert, Eugene Schneider, Anthony G. Quinn

    出版 2013
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  19. 19
    Clinical Features of Lysosomal Acid Lipase Deficiency

    Clinical Features of Lysosomal Acid Lipase Deficiency 由 Barbara K. Burton, Patrick Deegan, Gregory M. Enns, Ornella Guardamagna, Simon Horslen, Gerard K Hovingh, Steve Lobritto, Vĕra Malinová, Valérie A. McLin, Julian Raiman, Maja Di Rocco, Saikat Santra, Reena Sharma, Jolanta Sykut‐Cegielska, Chester B. Whitley, Stephen Eckert, Vassili Valayannopoulos, Anthony G. Quinn

    出版 2015
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  20. 20
    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society 由 Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andrea Gropman, Richard Haas, Michio Hirano, Philip G. Morgan, Katherine B. Sims, Mark A. Tarnopolsky, Johan L.K. Van Hove, Lynne A. Wolfe, Salvatore DiMauro

    出版 2014
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