Risultati della ricerca - Tina M. Cowan

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  1. 1
    Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy

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

    Pubblicazione 2017
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  2. 2
    Acylcarnitine profile analysis

    Acylcarnitine profile analysis di Piero Rinaldo, Tina M. Cowan, Dietrich Matern

    Pubblicazione 2008
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  3. 3
    Technical standards and guidelines for the diagnosis of biotinidase deficiency

    Technical standards and guidelines for the diagnosis of biotinidase deficiency di Tina M. Cowan, Miriam G. Blitzer, Barry Wolf

    Pubblicazione 2010
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  4. 4
    Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

    Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics di Erin T. Strovel, Tina M. Cowan, Anna I. Scott, Barry Wolf

    Pubblicazione 2017
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  5. 5
    Reducing False-Positive Results in Newborn Screening Using Machine Learning

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

    Pubblicazione 2020
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  6. 6
    A conserved role for AMP-activated protein kinase in NGLY1 deficiency

    A conserved role for AMP-activated protein kinase in NGLY1 deficiency di Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M. Cowan, Hamed Jafar‐Nejad

    Pubblicazione 2020
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  7. 7
    Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

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

    Pubblicazione 2009
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  8. 8
    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 di Gregory M. Enns, Tereza Moore, Anthony Le, Kondala R. Atkuri, M. K. SHAH, Kristina Cusmano‐Ozog, Anna‐Kaisa Niemi, Tina M. Cowan

    Pubblicazione 2014
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  9. 9
    Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

    Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes di 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

    Pubblicazione 2009
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  10. 10
    Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life

    Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life di Richard G. Boles, Elizabeth Buck, Miriam G. Blitzer, Marvin S. Platt, Tina M. Cowan, Spencer K. Martin, Hye‐Ran Yoon, Jill A. Madsen, Miguel Reyes‐Múgica, Piero Rinaldo

    Pubblicazione 1998
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  11. 11
    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 di 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

    Pubblicazione 2018
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  12. 12
    The role of vanin-1 and oxidative stress–related pathways in distinguishing acute and chronic pediatric ITP

    The role of vanin-1 and oxidative stress–related pathways in distinguishing acute and chronic pediatric ITP di Bing Zhang, Clara Lo, Lei Shen, Ruchira Sood, Carol D. Jones, Kristina Cusmano‐Ozog, S. Park-Snyder, Wendy Wong, Michael Jeng, Tina M. Cowan, Edgar G. Engleman, James L. Zehnder

    Pubblicazione 2011
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  13. 13
    Oncogenic KRAS Regulates Amino Acid Homeostasis and Asparagine Biosynthesis via ATF4 and Alters Sensitivity to L-Asparaginase

    Oncogenic KRAS Regulates Amino Acid Homeostasis and Asparagine Biosynthesis via ATF4 and Alters Sensitivity to L-Asparaginase di Dana M. Gwinn, Alex G. Lee, Marcela Briones-Martín-del-Campo, Crystal S. Conn, David R. Simpson, Anna I. Scott, Anthony Le, Tina M. Cowan, Davide Ruggero, E. Alejandro Sweet‐Cordero

    Pubblicazione 2018
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  14. 14
    A gut bacterial pathway metabolizes aromatic amino acids into nine circulating metabolites

    A gut bacterial pathway metabolizes aromatic amino acids into nine circulating metabolites di Dylan Dodd, Matthew H. Spitzer, William Van Treuren, Bryan D. Merrill, Andrew J. Hryckowian, Steven K. Higginbottom, Anthony Le, Tina M. Cowan, Garry P. Nolan, Michael A. Fischbach, Justin L. Sonnenburg

    Pubblicazione 2017
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  15. 15
    Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature

    Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature di 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

    Pubblicazione 2016
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  16. 16
    Host-microbe co-metabolism via MCAD generates circulating metabolites including hippuric acid

    Host-microbe co-metabolism via MCAD generates circulating metabolites including hippuric acid di Kali M. Pruss, Haoqing Chen, Yuanyuan Liu, William Van Treuren, Steven K. Higginbottom, John B. Jarman, Curt R. Fischer, Justin Mak, Beverly T Wong, Tina M. Cowan, Michael A. Fischbach, Justin L. Sonnenburg, Dylan Dodd

    Pubblicazione 2023
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  17. 17
    SETD3 is an actin histidine methyltransferase that prevents primary dystocia

    SETD3 is an actin histidine methyltransferase that prevents primary dystocia di Alex W. Wilkinson, Jonathan Diep, Shaobo Dai, Shuo Liu, Yaw Shin Ooi, Dan Song, Tie-Mei Li, J.R. Horton, Xing Zhang, Chao Liu, Darshan V. Trivedi, Katherine M. Ruppel, José G. Vilches-Moure, Kerriann M. Casey, Justin Mak, Tina M. Cowan, Joshua E. Elias, Claude M. Nagamine, James A. Spudich, Xiaodong Cheng, Jan E. Carette, Or Gozani

    Pubblicazione 2018
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  18. 18
    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway di Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonathan A. Bernstein, Mena Scavina, Rhonda S. Walter, Audrey Bibb, Melanie A. Jones, Madhuri Hegde, Brett H. Graham, Anna C. Need, Angélica Oviedo, Christian P. Schaaf, Seán Boyle, Atul J. Butte, Rong Chen, Michael J. Clark, Rajini Haraksingh, Tina M. Cowan, Ping He, Sylvie Langlois, Huda Y. Zoghbi, M Snyder, Richard A. Gibbs, Hudson H. Freeze, David B. Goldstein

    Pubblicazione 2014
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  19. 19
    Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

    Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder di Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernández, Jean M. Davidson, Jennifer Kyle, Megan E. Grove, Dianna G. Fisk, Jennefer N. Kohler, Matthew Holmes, Annika M. Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika Zink, Young‐Mo Kim, Heino Heyman, Kelly G. Stratton, Bobbie‐Jo Webb‐Robertson, M Snyder, Jason D. Merker, Stephen B. Montgomery, Paul G. Fisher, René G. Feichtinger, Johannes A. Mayr, Julie Hall, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Katrina M. Waters, David M. Koeller, Thomas Metz, Andrew A. M. Morris, Susan Schelley, Tina M. Cowan, Marisa W. Friederich, Robert McFarland, Johan L.K. Van Hove, Gregory M. Enns, Shinya Yamamoto, Euan A. Ashley, Michael F. Wangler, Robert W. Taylor, Hugo J. Bellen, Jonathan A. Bernstein, Matthew T. Wheeler, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl

    Pubblicazione 2018
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