PUBLICATIONS You can learn more about our research and development through scientific publications and presentations from the Aeglea team and our collaborators. Select a Program ALL Arginase 1 Deficiency Homocystinuria October 2022 ARG1 Variants in Arginase 1 Deficiency: Genetic Characterization of Participants in the Pegzilarginase Clinical Trials Markey McNutt, MD, PhD; Gillian Bubb, PhD; Linda Neuman, MD; Roberto T. Zori, MD American Society of Human Genetics (ASHG) Annual Meeting 2022 September 2022 The role of control of arginine levels in arginase 1 deficiency George A. Diaz, Mark Bechter, Stephen D. Cederbaum Journal of Inherited Metabolic Disease August 2022 Dietary management of homocystinuria (HCU) caused by cystathionine beta-synthase (CBS) deficiency: Perspectives from a global cohort of metabolic dietitians Danielle Starin; Anita MacDonald; Mark Bechter; Kevin Thorneloe; Meredith Hart SSIEM (SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM) 43rd Symposium August 2022 Pegzilarginase Efficacy in Arginase 1 Deficiency: Results of the PEACE Pivotal Phase 3 Trial Rossana Sanchez Russo, MD; Serena Gasperini, MD; Eric Bradford, MD, MSc, MBA; Gillian Bubb, PhD; Leslie S. Sloan, PhD; Mark Bechter, BM; Gregory M. Enns, MB, ChB SSIEM (SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM) 43rd Symposium August 2022 Safety and Tolerability of Pegzilarginase for Arginase 1 Deficiency in the PEACE Pivotal Phase 3 Clinical Trial Rossana Sanchez Russo, MD, Serena Gasperini, MD, Eric Bradford, MD, MSc, MBA, Gillian Bubb, PhD, Leslie S. Sloan, PhD, Mark Bechter, BM, Gregory M. Enns, MB, ChB SSIEM (SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM) 43rd Symposium August 2022 Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review Aseel Bin Sawad, John Jackimiec, Mark Bechter, Allison Trucillo, Kristina Lindsley, Anil Bhagat, Jennifer Uyei, George A. Diaz Molecular Genetics and Metabolism June 2022 Health Care Resource Utilization in the Management of Patients with Arginase 1 Deficiency in the US: A Retrospective, Observational, Claims Database Study Aseel Bin Sawad, John Jackimiec, Mark Bechter, Michael Hull, Jason Yeaw, Yi Wang & George A. Diaz JME, Journal of Medical Economics April 2022 Pegzilarginase in Arginase 1 Deficiency: Results of the PEACE Pivotal Phase 3 Clinical Trial Gregory M. Enns, MB, ChB; Rossana Sanchez Russo, MD; Eric Bradford, MD, MSc, MBA; Gillian Bubb, PhD; Leslie S. Sloan, PhD; Serena Gasperini, MD; George A. Diaz, MD, PhD Society for Inherited Metabolic Disorders Annual Meeting March 2022 Pre-Analytical Considerations Are Important In The Pharmacological Assessment Of Enzyme Therapeutics Kevin Thorneloe, Chris Daige, Jason Wiggins, Leslie Priddy, Jess Van Cleef, Silvia Ferrati, Leslie Sloan, and Scott Rowlinson ACMG Annual Clinical Genetics Meeting March 2022 Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports Aseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, Victoria Hodson, Gillian Bubb, Kristina Lindsley, Jennifer Uyei, George A. Diaz JIMD Reports 1234>> Get In Touch With Us View Contact Page
