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Your search keyword '"Gregory M. Enns"' showing total 11 results
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11 results on '"Gregory M. Enns"'

1. Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialResearch in context

Author

Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S. Sloan, George A. Diaz, and Gregory M. Enns

Subjects
Arginine, Arginase 1, ARG1-D, Enzyme therapy, Gross motor function measure, Guanidino compounds, Medicine (General), R5-920
Abstract

Summary: Background: Arginase 1 Deficiency (ARG1-D) is a rare debilitating, progressive, inherited, metabolic disease characterized by marked increases in plasma arginine (pArg) and its metabolites, with increased morbidity, substantial reductions in quality of life, and premature mortality. Effective treatments that can lower arginine and improve clinical outcomes is currently lacking. Pegzilarginase is a novel human arginase 1 enzyme therapy. The present trial aimed to demonstrate efficacy of pegzilarginase on pArg and key mobility outcomes. Methods: This Phase 3 randomized, double-blind, placebo-controlled, parallel-group clinical trial (clinicaltrials.gov NCT03921541, EudraCT 2018-004837-34), randomized patients with ARG1-D 2:1 to intravenously/subcutaneously once-weekly pegzilarginase or placebo in conjunction with their individualized disease management. It was conducted in 7 countries; United States, United Kingdom, Canada, Austria, France, Germany, Italy. Primary endpoint was change from baseline in pArg after 24 weeks; key secondary endpoints were change from baseline at Week 24 in Gross Motor Function Measure part E (GMFM-E) and 2-min walk test (2MWT). Full Analysis Set was used for the analyses. Findings: From 01 May 2019 to 29 March 2021, 32 patients were enrolled and randomized (pegzilarginase, n = 21; placebo, n = 11). Pegzilarginase lowered geometric mean pArg from 354.0 μmol/L to 86.4 μmol/L at Week 24 vs 464.7 to 426.6 μmol/L for placebo (95% CI: −67.1%, −83.5%; p

Published
2024
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2. 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

Author

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

Subjects
Glycogen storage disorder type IX, GSD IXɑ2, PHKA2, Sensorineural hearing loss, Neonatal lactic acidosis, Renal tubulopathy, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis. GSD IXɑ2 is caused by hemizygous pathogenic variants in PHKA2, and results in deficiency of the phosphorylase kinase enzyme, particularly in the liver. Like other GSDs, GSD IXɑ2 can present with hypoglycemia and post-prandial lactic acidosis, but has never been reported in a newborn, nor with lactic acidosis as the presenting feature. Here we describe the clinical presentation and course of a newborn boy with profound neonatal lactic and metabolic acidosis, renal tubulopathy, and sensorineural hearing loss (SNHL) diagnosed with GSD IXɑ2 through exome sequencing. Review of the literature suggests this case represents an atypical and severe presentation of GSD IXɑ2 and proposes expansion of the phenotype to include neonatal lactic acidosis and renal tubulopathy.

Published
2021
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3. Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

Author

Anna-Kaisa Niemi, Candida Brown, Tereza Moore, Gregory M. Enns, and Tina M. Cowan

Subjects
SSADH, Oxidative stress, Glutathione, GSH, Mitochondria, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

The pathophysiology of succinic semialdehyde dehydrogenase (SSADH) deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reported in humans. We report on a patient with SSADH deficiency in whom we found low levels of blood reduced glutathione (GSH), and elevations of dicarboxylic acids in urine, suggestive of possible redox imbalance and/or mitochondrial dysfunction. Thus, targeting the oxidative stress axis may be a potential therapeutic approach if our findings are confirmed in other patients.

Published
2014
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4. Contributors

Author

Gregory S. Aaen, Nicholas Scott Abend, Amal Abou-Hamden, Jeffrey C. Allen, Anthony A. Amato, Catherine Amlie-Lefond, Stephen Ashwal, Russell C. Bailey, James F. Bale, Brenda Banwell, Kristin W. Barañano, A. James Barkovich, Richard J. Barohn, Ute K. Bartels, Brenda Bartnik-Olson, Ori Barzilai, Alexander Bassuk, David R. Bearden, Liat Ben-Sira, Timothy J. Bernard, Elizabeth Berry-Kravis, Lauren A. Beslow, Jaclyn A. Biegel, Lori Billinghurst, Angela K. Birnbaum, Joanna S. Blackburn, Nuala Bobowski, Adrienne Boire, Carsten G. Bönnemann, Sonia L. Bonifacio, Daniel J. Bonthius, Breck Borcherding, Brian R. Branchford, John Brandsema, Kathryn M. Brennan, J. Nicholas Brenton, Amy R. Brooks-Kayal, Lawrence W. Brown, Jeffrey Buchalter, Carol S. Camfield, Peter R. Camfield, Cristina Campoy, Jessica L. Carpenter, Taeun Chang, Vann Chau, Susan N. Chi, Claudia A. Chiriboga, Yoon-Jae Cho, Cindy W. Christian, Nicholas Chrestian, Maria Roberta Cilio, Robin D. Clark, Bruce H. Cohen, Ronald D. Cohn, Anne M. Connolly, Todd Constable, Shlomi Constantini, Jeannine M. Conway, David L. Coulter, Tina M. Cowan, Russell C. Dale, Benjamin Darbro, Basil T. Darras, Jahannaz Dastgir, Linda De Meirleir, Darryl C. De Vivo, Linda S. de Vries, Jeremy K. Deisch, Paul Deltenre, Jay Desai, Maria Descartes, Gabrielle deVeber, Sameer C. Dhamne, Jullianne Diaz, Salvatore DiMauro, William B. Dobyns, Dan Doherty, Elizabeth J. Donner, Nico U.F. Dosenbach, James J. Dowling, James M. Drake, Cecile Ejerskov, Andrew G. Engel, Gregory M. Enns, María Victoria Escolano-Margarit, Iris Etzion, S. Ali Fatemi, Darcy L. Fehlings, Michelle Lauren Feinberg, Donna M. Ferriero, Pauline A. Filipek, Richard S. Finkel, Paul G. Fisher, Kevin Flanigan, Nicholas K. Foreman, Israel Franco, Yitzchak Frank, Douglas R. Fredrick, Hudson H. Freeze, Cristina Fuente-Mora, Joseph M. Furman, Renata C. Gallagher, Catherine Garel, Emily Gertsch, Donald L. Gilbert, Elizabeth E. Gilles, Christopher C. Giza, Carol A. Glaser, Hannah C. Glass, Tracy Glauser, Joseph Glykys, Amy Goldstein, Hernan Dario Gonorazky, Rodolfo Gonzalez, Howard P. Goodkin, John M. Graham, Alexander L. Greninger, Gary Gronseth, Andrea L. Gropman, Richard Grundy, Renzo Guerrini, Nalin Gupta, Jin S. Hahn, Milton H. Hamblin, Abeer J. Hani, Sharyu Hanmantgad, Mary J. Harbert, Chellamani Harini, Andrea M. Harriott, Chad Heatwole, Andrew D. Hershey, Deborah G. Hirtz, Gregory L. Holmes, Barbara A. Holshouser, Kathleen A. Hurwitz, Eugene Hwang, Rebecca N. Ichord, Paymaan Jafar-Nejad, Sejal V. Jain, Lori Jordan, Marielle A. Kabbouche, Joanne Kacperski, Peter B. Kang, Matthias A. Kariannis, Horacio Kaufmann, Harper L. Kaye, Robert Keating, Colin R. Kennedy, Yasmin Khakoo, Adam Kirton, John T. Kissel, Kelly G. Knupp, Bruce R. Korf, Eric H. Kossoff, Sanjeev V. Kothare, Oren Kupfer, W. Curt LaFrance, Beatrice Latal, Steven M. Leber, Jean-Pyo Lee, Ilo E. Leppik, Tally Lerman-Sagie, Jason T. Lerner, Richard J. Leventer, Daniel J. Licht, Uta Lichter-Konecki, Zvi Lidar, Djin Gie Liem, Tobias Loddenkemper, Roger K. Long, Quyen N. Luc, Mark Mackay, Annette Majnemer, Naila Makhani, Gustavo Malinger, David E. Mandelbaum, Stephen M. Maricich, Kiran P. Maski, Mudit Mathur, Dennis J. Matthews, Kelly McMahon, Megan B. DeMara-Hoth, Bryce Mendelsohn, Julie A. Mennella, Laura R. Ment, Eugenio Mercuri, David J. Michelson, Mohamad A. Mikati, Fady M. Mikhail, Steven Paul Miller, Jeff M. Milunsky, Jonathan W. Mink, Ghayda M. Mirzaa, Wendy G. Mitchell, Michael A. Mohan, Payam Mohassel, Mahendranath Moharir, Umrao R. Monani, Michelle Monje Deisseroth, Manikum Moodley, Andrew Mower, Richard T. Moxley, Sabine Mueller, Alysson R. Muotri, Sandesh C.S. Nagamani, Mohan J. Narayanan, Vinodh Narayanan, Ruth D. Nass, Jeffrey L. Neul, Yoram Nevo, Bobby G. Ng, Katherine C. Nickels, Graeme A.M. Nimmo, Michael J. Noetzel, Lucy Norcliffe-Kaufmann, Douglas R. Nordli, Ulrike Nowak-Göttl, Hope L. O'Brien, Joyce Oleszek, Maryam Oskoui, Alex R. Paciorkowski, Roger J. Packer, Seymour Packman, Jose-Alberto Palma, Andrea C. Pardo, Julie A. Parsons, John Colin Partridge, Gregory M. Pastores, Marc C. Patterson, William J. Pearce, Phillip L. Pearl, Melanie Penner, Leila Percival, Marcia Pereira, Stefan M. Pfister, John Phillips, Barbara Plecko, Sigita Plioplys, Annapurna Poduri, Sharon Poisson, Scott L. Pomeroy, Andrea Poretti, Scott W. Powers, Michael R. Pranzatelli, Allison Przekop, Malcolm Rabie, Sampathkumar Rangasamy, Gerald V. Raymond, Alyssa T. Reddy, Rebecca L. Rendleman, Jong M. Rho, Lance H. Rodan, Sarah M. Roddy, Elizabeth E. Rogers, Stephen M. Rosenthal, N. Paul Rosman, M. Elizabeth Ross, Alexander Rotenberg, Robert S. Rust, Cheryl P. Sanchez, Pedro Sanchez, Iván Sánchez Fernández, Tristan T. Sands, Terence D. Sanger, Kumar Sannagowdara, Dustin Scheinost, Mark S. Scher, Nina F. Schor, Isabelle Schrauwen, Michael M. Segal, Syndi Seinfeld, Duygu Selcen, Laurie E. Seltzer, Margaret Semrud-Clikeman, Dennis W. Shaw, Bennett A. Shaywitz, Sally E. Shaywitz, Renée A. Shellhaas, Elliott H. Sherr, Rita D. Sheth, Michael I. Shevell, Shlomo Shinnar, Ben Shofty, Stanford K. Shu, Michael E. Shy, Laura Silveira Moriyama, Nicholas J. Silvestri, Katherine B. Sims, Harvey S. Singer, Nilika Shah Singhal, Craig M. Smith, Edward Smith, Stephen A. Smith, Evan Y. Snyder, Janet Soul, Christy L. Spalink, Karen A. Spencer, Carl E. Stafstrom, Robert Steinfeld, Jonathan B. Strober, Joseph Sullivan, Kenneth F. Swaiman, Kathryn J. Swoboda, Elizabeth D. Tate, William O. Tatum, Ingrid Tein, Kristyn Tekulve, Jeffrey R. Tenney, Elizabeth A. Thiele, Robert Thompson-Stone, Laura Tochen, Laura M. Tormoehlen, Lily Tran, Doris A. Trauner, Sinan O. Turnacioglu, Nicole J. Ullrich, David K. Urion, Guy Van Camp, Michèle Van Hirtum-Das, Clara D.M. van Karnebeek, Lionel Van Maldergem, Adeline Vanderver, Nicholas A. Vitanza, Michael von Rhein, Emily von Scheven, Ann Wagner, Mark S. Wainwright, Melissa A. Walker, John T. Walkup, Laurence Walsh, Lauren C. Walters-Sen, Raymond Y. Wang, Thomas T. Warner, Harry T. Whelan, Geoffrey A. Weinberg, Elizabeth M. Wells, James W. Wheless, Elaine C. Wirrell, Jeffrey H. Wisoff, Nicole I. Wolf, Gil I. Wolfe, F. Virginia Wright, Nathaniel D. Wycliffe, Michele L. Yang, Christopher J. Yuskaitis, Huda Y. Zoghbi, and Mary L. Zupanc

Published
2017
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6. Contributors

Author

Amal Abou-Hamden, Anthony A. Amato, Stephen Ashwal, Felicia B. Axelrod, James F. Bale, Brenda Banwell, Kristin W. Baranano, A. James Barkovich, Richard J. Barohn, Mark L. Batshaw, Liat Ben-Sira, Angela K. Birnbaum, Rose-Mary N. Boustany, Amy Brooks-Kayal, Lawrence W. Brown, Carol S. Camfield, Peter R. Camfield, Margaretha L. Casselbrant, Claudia A. Chiriboga, Susan L. Christian, Maria Roberta Cilio, Anne M. Connolly, Jeannine M. Conway, Susannah Cornes, David L. Coulter, Tina M. Cowan, Soma Das, Darryl C. De Vivo, Linda S. de Vries, Jay Desai, Maria Descartes, Gabrielle deVeber, Salvatore DiMauro, William B. Dobyns, Qing Dong, James M. Drake, Ann-Christine Duhaime, Adre J. du Plessis, Mohamad K. El-Bitar, Gregory M. Enns, Diana M. Escolar, Owen B. Evans, S. Ali Fatemi, Donna M. Ferriero, Pauline A. Filipek, Yitzchak Frank, Douglas R. Fredrick, Hudson H. Freeze, Neil R. Friedman, Joseph M. Furman, Bhuwan P. Garg, Debabrata Ghosh, Elizabeth E. Gilles, Christopher C. Giza, Carol A. Glaser, Joseph G. Gleeson, John M. Graham, Pierre Gressens, Renzo Guerrini, Nalin Gupta, Jin S. Hahn, Chellamani Harini, Chad Heatwole, Deborah G. Hirtz, Gregory L. Holmes, Barbara A. Holshouser, Rebecca N. Ichord, Paymaan Jafar-Nejad, Frances E. Jensen, Michael V. Johnston, Lori Jordan, Yasmin Khakoo, Mustafa Khasraw, Adam Kirton, John T. Kissel, Ophir Klein, Kelly Knupp, Bruce R. Korf, Suresh Kotagal, Steven Leber, Ilo E. Leppik, Tally Lerman-Sagie, Jason T. Lerner, Robert T. Leshner, Richard J. Leventer, Donald W. Lewis, Paul F. Lewis, Uta Lichter-Konecki, Catherine Limperopoulos, Janice K. Louie, Quyen N. Luc, Tobey J. MacDonald, Naila Makhani, Gustavo Malinger, David E. Mandelbaum, Charles J. Marcuccilli, Stephen M. Maricich, Lee J. Martin, Julie A. Mennella, Laura R. Ment, David J. Michelson, Fady M. Mikhail, Kathleen J. Millen, Steven P. Miller, Jonathan W. Mink, Ghayda Mirzaa, Wendy G. Mitchell, Manikum Moodley, Lawrence D. Morton, Richard T. Moxley, Srikanth Muppidi, Kendall Nash, Ruth Nass, Michael J. Noetzel, Douglas R. Nordli, Frances J. Northington, Robert Ouvrier, Roger J. Packer, Seymour Packman, Julie A. Parsons, John C. Partridge, Gregory M. Pastores, Marc C. Patterson, John M. Pellock, Ronald M. Perkin, Isabelle Rapin, Gerald V. Raymond, Rebecca Rendleman, Jong M. Rho, Sarah M. Roddy, Stephen M. Rosenthal, N. Paul Rosman, M. Elizabeth Ross, Robert S. Rust, Pedro A. Sanchez-Lara, Terence D. Sanger, Oranee Sanmaneechai, Urs B. Schaad, Mark S. Scher, Nina F. Schor, Michael M. Segal, Bennett A. Shaywitz, Sally E. Shaywitz, Elliott H. Sherr, Michael I. Shevell, Shlomo Shinnar, Stanford K. Shu, Faye S. Silverstein, Harvey S. Singer, John T. Sladky, Stephen A. Smith, Janet S. Soul, Carl E. Stafstrom, Jonathan B. Strober, Joseph Sullivan, Kenneth F. Swaiman, Matthew T. Sweney, Kathryn J. Swoboda, Martin G. Täuber, Donald A. Taylor, Ingrid Tein, Elizabeth A. Thiele, Doris A. Trauner, Roberto Tuchman, Adeline Vanderver, Michéle Van Hirtum-Das, V. Venkataraman Vedanarayanan, Zinaida S. Vexler, Gilbert Vezina, Emily von Scheven, Ann Wagner, Mark S. Wainwright, John T. Walkup, Laurence E. Walsh, Ching H. Wang, James W. Wheless, Nicole I. Wolf, Gil I. Wolfe, Yvonne W. Wu, Nathaniel D. Wycliffe, Jerome Y. Yager, Jennifer A. Zimmer, Huda Y. Zoghbi, and Mary L. Zupanc

Published
2012
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7. Hypoglycemia

Author

Gregory M. Enns and Nicole Glaser

Subjects
medicine.medical_specialty, business.industry, medicine, Hypoglycemia, Intensive care medicine, business, medicine.disease
Published
2008
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8. Contributors

Author

Fredrick M. Abrahamian, Thomas J. Abramo, Robert Acosta, Paula Agosto, Coburn Allen, Elizabeth R. Alpern, Jesus M. Arroyo, Miriam Aschkenasy, Peter S. Auerbach, Franz E. Babl, Michael C. Bachman, Megan H. Bair-Merritt, Roger A. Band, Isabel Barata, Besh Barcega, Jill M. Baren, Beverly H. Bauman, Lee S. Benjamin, Suzanne M. Beno, Deena Berkowitz, Jason E. Bernad, Daan Biesbroeck, Jeffrey S. Blake, Frederick C. Blum, Boura'a Bou Aram, John C. Brancato, Daniel F. Brennan, John A. Brennan, Allison V. Brewer, Kenneth B. Briskin, Kathleen Brown, Lance Brown, Linda L. Brown, Michael D. Burg, Sean P. Bush, James M. Callahan, Richard M. Cantor, Nicole P. Carbonell, Eric T. Carter, David D. Cassidy, Marina Catallozzi, Esther H. Chen, Richard E. Chinnock, Christine S. Cho, Thomas H. Chun, Mark C. Clark, Robert L. Cloutier, Teresa J. Coco, Arthur Cooper, James D'Agostino, Elizabeth M. Datner, Sergio V. Delgado, T. Kent Denmark, Andrew DePiero, Stephanie J. Doniger, Aaron J. Donoghue, Gregory M. Enns, Mirna M. Farah, Joel A. Fein, George L. Foltin, Eron Y. Friedlaender, Susan Fuchs, Gregory Garra, Marianne Gausche-Hill, Barry G. Gilmore, Timothy G. Givens, Nicole Glaser, Theodore E. Glynn, Ran D. Goldman, Marc H. Gorelick, Vincent J. Grant, Steven M. Green, Victoria S. Gregg, Jacqueline Grupp-Phelan, Martin I. Herman, Marilyn P. Hicks, Nancy E. Holecek, Mark A. Hostetler, Vivian Hwang, Alson S. Inaba, Sean F. Isaak, Paul Ishimine, Cynthia R. Jacobstein, Gloria Cecelia C. Jacome, David M. Jaffe, David P. John, Madeline Matar Joseph, Kelly A. Keogh, Nazeema Khan, Grace J. Kim, Tommy Y. Kim, Brent R. King, Christopher R. King, Niranjan Kissoon, Craig A. Kizewic, Ann Klasner, Terry P. Klassen, Stephen R. Knazik, Paul Kolecki, Baruch Krauss, Kelly L. Kriwanek, Nathan Kuppermann, Kenneth T. Kwon, Steve Levi, Deborah A. Levine, Stuart Lewena, Erica L. Liebelt, Marc Y.R. Linares, Robert Luten, Sharon E. Mace, Charles G. Macias, Ian Maconochie, William K. Mallon, Courtney H. Mann, Deborah J. Mann, Jonathan Marr, Nestor Martinez, Andrew D. Mason, Todd A. Mastrovitch, Thom A. Mayer, James J. McCarthy, Maureen McCollough, Ryan S. McCormick, Barbara E. McDevitt, William M. McDonnell, Mark S. McIntosh, Francis Mencl, Russell Migita, Angela M. Mills, Lilit Minasyan, Rakesh D. Mistry, Ameer P. Mody, Cynthia J. Mollen, James A. Moynihan, Antonio E. Muñiz, Stacey Murray-Taylor, Michael J. Muszynski, Frances M. Nadel, Alan L. Nager, John F. O'Brien, Pamela J. Okada, Robert P. Olympia, Kevin C. Osterhoudt, Patricia S. Padlipsky, Joe Pagane, Ruth Ann Pannell, Norman A. Paradis, Ronald I. Paul, Barbara M. Garcia Peña, Jay Pershad, Shari L. Platt, Jill C. Posner, Amy L. Puchalski, Earl J. Reisdorff, Mark G. Roback, Steven C. Rogers, Genie E. Roosevelt, Lazaro G. Rosales, Kimberly R. Roth, Steven G. Rothrock, Alfred Sacchetti, Peter D. Sadowitz, Esther Maria Sampayo, John P. Santamaria, Neil Schamban, Carl H. Schultz, Sandra H. Schwab, Fred Schwartz, Deborah Scott, Matthew A. Seibel, Samir S. Shah, Ghazala Q. Sharieff, Richard D. Shih, Jan M. Shoenberger, Ian Shrier, Jonathan I. Singer, Sharon R. Smith, Abdul-Kader Souid, Blake Spirko, Nicole S. Sroufe, Rachel M. Stanley, Robert Steele, Mardi Steere, Gail M. Stewart, Patricia Sweeney-McMahon, David A. Talan, Todd B. Taylor, Stephen J. Teach, Sieuwert-Jan C. ten Napel, Thomas E. Terndrup, Tonya M. Thompson, Andrea Thorp, Irene Tien, John A. Tilelli, Nicholas Tsarouhas, Michael G. Tunik, Christian Vaillancourt, Jonathan H. Valente, Peter Viccellio, Andrew Wackett, Ron M. Walls, Jennifer L. Waxler, Evan J. Weiner, Stuart B. Weiss, James A. Wilde, Kristine G. Williams, Michael Witt, Aaron Wohl, Tony Woodward, Robert Bruce Wright, Todd Wylie, Kelly D. Young, Joseph J. Zorc, and Alexander Zouros

Published
2008
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