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Journal Articles

Efficacy and safety of mitapivat in pediatric patients with pyruvate kinase deficiency who are not regularly transfused: Results from the Phase 3, global, randomized, double-blind, placebo-controlled ACTIVATE-Kids trial

Free
Satheesh Chonat, Rachael Grace, Kathryn Dickerson, Oliver Andres, Marije Bartels, Vanessa Beynon, Jenny Despotovic, Bertil Glader, Yoann Huguenin, Janet Kwiatkowski, Erin Laflam, Leonardo Rivadeneyra, Bryan McGee, Ophelia Yin, Thais Murciano Carrillo, Yves Pastore, Jennifer Rothman, Patrick Tyler, Emily Xu, Raffaele Renella, Julian Sevilla
Journal: Blood
Blood (2025) 146 (Supplement 1): 4654.
https://doi.org/10.1182/blood-2025-4654
Published: 2025
Journal Articles

Disease monitoring and management among pediatric patients with pyruvate kinase deficiency: Real-world practices from pyruvate kinase deficiency registries prior to 2024 international expert guidelines

Free
Sule Unal, Stefan W. Eber, Andreas Glenthoej, Bertil Glader, Eduard Van Beers, Rachael Grace, Joan-Lluis Vives Corrons, Hitoshi Kanno, Kevin Kuo, Paola Bianchi, Bryan McGee, Yan (Flame) Yan, Audra Boscoe, Junlong Li, Janet Ford, Carl Lander
Journal: Blood
Blood (2025) 146 (Supplement 1): 4454.
https://doi.org/10.1182/blood-2025-4454
Published: 2025
Journal Articles

Clinical Monitoring Practices Among Adult Patients with Pyruvate Kinase Deficiency Who Have Never Been Transfused

Free
Stefan W Eber, Andreas Glenthøj, Bertil Glader, Dagmar Pospisilova, Eduard J. van Beers, Rachael F. Grace, Joan-Lluis Vives Corrons, Hitoshi Kanno, Kevin H.M. Kuo, Paola Bianchi, Audra Boscoe, Bryan McGee, Yan Yan, Junlong Li, Janet H. Ford, Carl Lander
Journal: Blood
Blood (2024) 144 (Supplement 1): 3696.
https://doi.org/10.1182/blood-2024-200739
Published: 2024
Journal Articles

Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency

Free
Paola Bianchi, Elisa Fermo, Kevin H.M. Kuo, Dagmar Pospíšilová, Andreas Glenthoej, Carl Lander, Eduard J. Van Beers, Bertil Glader, Joan-Lluis Vives Corrons, Stefan W Eber, Yan Yan, Bryan McGee, Janet H Ford, Saliha Yilmaz, Rachael F. Grace
Journal: Blood
Blood (2023) 142 (Supplement 1): 5203.
https://doi.org/10.1182/blood-2023-181834
Published: 2023
Journal Articles

Improvements in Markers of Hemolysis and Liver Iron Concentration in Mitapivat-Treated Adult Patients with a Delayed Hemoglobin Response

Free
Eduard J. Van Beers, Bryan McGee, Rengyi Xu, Melissa Dibacco, Kevin H.M. Kuo, Hanny Al-Samkari
Journal: Blood
Blood (2023) 142 (Supplement 1): 5226.
https://doi.org/10.1182/blood-2023-186533
Published: 2023
Journal Articles

Age of Onset of Complications in Patients with Pyruvate Kinase Deficiency: Analysis from the Peak Registry

Free
Andreas Glenthøj, Rachael F. Grace, Eduard J. van Beers, Joan-Lluis Vives Corrons, Bert Glader, Kevin H.M. Kuo, Carl Lander, Dagmar Pospíšilová, Hitoshi Kanno, Jean Williams, Yan Yan, Bryan McGee, Paola Bianchi
Journal: Blood
Blood (2022) 140 (Supplement 1): 5323–5325.
https://doi.org/10.1182/blood-2022-156205
Published: 2022
Journal Articles

Comorbidities and Complications in Pediatric Patients with Pyruvate Kinase Deficiency Enrolled in the Peak Registry

Free
Rachael F. Grace, Andreas Glenthøj, Carl Lander, Eduard J. van Beers, Hitoshi Kanno, Joan-Lluis Vives Corrons, Paola Bianchi, Dagmar Pospíšilová, Jean Williams, Yan Yan, Bryan McGee, Bert Glader
Journal: Blood
Blood (2022) 140 (Supplement 1): 5316–5318.
https://doi.org/10.1182/blood-2022-168799
Published: 2022
Journal Articles

Long-Term Hemoglobin Response and Reduction in Transfusion Burden Are Maintained in Patients with Pyruvate Kinase Deficiency Treated with Mitapivat

Free
Rachael F. Grace, Andreas Glenthøj, Wilma Barcellini, Madeleine Verhovsek, Jennifer A. Rothman, Marta Morado, D. Mark Layton, Oliver Andres, Frédéric Galactéros, Eduard J. van Beers, Koichi Onodera, Vip Viprakasit, Satheesh Chonat, Malia P. Judge, Penelope A. Kosinski, Peter Hawkins, Sarah Gheuens, Emily Xu, Bryan McGee, Vanessa Beynon, Hanny Al-Samkari
Journal: Blood
Blood (2022) 140 (Supplement 1): 5313–5315.
https://doi.org/10.1182/blood-2022-169125
Published: 2022
Journal Articles

Next Generation Sequencing for the Diagnosis of Hereditary Hemolytic Anemias Including Pyruvate Kinase Deficiency: Report from a No-Cost Diagnostic Program

Free
Jorune Balciuniene, Geetha Puthenveetil, Bryan McGee, Archana M Agarwal
Journal: Blood
Blood (2022) 140 (Supplement 1): 2436–2437.
https://doi.org/10.1182/blood-2022-167123
Published: 2022
Journal Articles

The Launch of Two Sub-Studies of the Peak Registry, a Global, Longitudinal Study of Pyruvate Kinase Deficiency

Free
Carl Lander, Rachael F. Grace, Eduard J. van Beers, Joan-Lluis Vives Corrons, Bert Glader, Kevin H.M. Kuo, Andreas Glenthøj, Dagmar Pospíšilová, D. Mark Layton, Audra Boscoe, Stephanie Smith, Bryan McGee, Paola Bianchi
Journal: Blood
Blood (2022) 140 (Supplement 1): 11041–11042.
https://doi.org/10.1182/blood-2022-163079
Published: 2022
Journal Articles

Bone Mineral Density Remains Stable in Pyruvate Kinase Deficiency Patients Receiving Long-Term Treatment with Mitapivat

Free
Hanny Al-Samkari, Rachael F. Grace, Andreas Glenthoej, Oliver Andres, Wilma Barcellini, Frédéric Galactéros, Kevin H.M. Kuo, D. Mark Layton, Marta Morado, Vip Viprakasit, Yan Dong, Feng Tai, Liz Grekas, Karishma Khoja, Sarah Gheuens, Bryan McGee, John B. Porter, Eduard J. Van Beers
Journal: Blood
Blood (2021) 138 (Supplement 1): 924.
https://doi.org/10.1182/blood-2021-147156
Published: 2021
Journal Articles

Characterizing Iron Overload By Age in Patients Diagnosed with Pyruvate Kinase Deficiency - a Descriptive Analysis from the Peak Registry

Free
Paola Bianchi, Rachael F. Grace, Joan-Lluis Vives Corrons, Bert Glader, Andreas Glenthøj, Hitoshi Kanno, Kevin H.M. Kuo, Carl Lander, D. Mark Layton, Dagmar Pospíŝilová, Vip Viprakasit, Jean Williams, Yan Yan, Bryan McGee, Eduard J. Van Beers
Journal: Blood
Blood (2021) 138 (Supplement 1): 3074.
https://doi.org/10.1182/blood-2021-147294
Published: 2021
Journal Articles

Mitapivat Improves Ineffective Erythropoiesis and Reduces Iron Overload in Patients with Pyruvate Kinase Deficiency

Free
Eduard J. Van Beers, Hanny Al-Samkari, Rachael F. Grace, Wilma Barcellini, Andreas Glenthoej, Malia P. Judge, Penelope A. Kosinski, Emily Xu, Vanessa Beynon, Bryan McGee, John B. Porter, Kevin H.M. Kuo
Journal: Blood
Blood (2021) 138 (Supplement 1): 2005.
https://doi.org/10.1182/blood-2021-147317
Published: 2021
Journal Articles

Durability of Hemoglobin Response and Reduction in Transfusion Burden Is Maintained over Time in Patients with Pyruvate Kinase Deficiency Treated with Mitapivat in a Long-Term Extension Study

Free
Rachael F. Grace, Andreas Glenthoej, Wilma Barcellini, Madeleine Verhovsek, Jennifer A. Rothman, Marta Morado, D. Mark Layton, Oliver Andres, Frédéric Galactéros, Eduard J. Van Beers, Koichi Onodera, Vip Viprakasit, Satheesh Chonat, John B. Porter, Malia P. Judge, Penelope A. Kosinski, Peter Hawkins, Sarah Gheuens, Emily Xu, Bryan McGee, Vanessa Beynon, Hanny Al-Samkari
Journal: Blood
Blood (2021) 138 (Supplement 1): 848.
https://doi.org/10.1182/blood-2021-147711
Published: 2021