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Bertil Glader, MD PhD
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Journal Articles

Lentiviral Mediated Gene Therapy for Pyruvate Kinase Deficiency: A Global Phase 1 Study for Adult and Pediatric Patients

José Luis López Lorenzo, MD, Susana Navarro, PhD, Ami J Shah, MD, Maria Grazia Roncarolo, MD, Julián Sevilla, MD PhD, Lucía Llanos, MD PhD, Begoña Pérez Camino de Gaisse, MD, Sol Sanchez, MD, Bertil Glader, MD PhD, May Chien, MD, Oscar Quintana Bustamante, PhD, Brian C Beard, PhD, Kenneth M Law, PhD, Miriam Zeini, PhD, Grace Choi, BS, Eileen Nicoletti, MD, Juan A Bueren, PhD, Gayatri R Rao, MD JD, Jonathan D Schwartz, MD, José C Segovia, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 47.
https://doi.org/10.1182/blood-2020-137246
Published: 2020
Journal Articles

Metformin Upregulates Mir-26a to Improve Erythropoiesis in Preclinical Models of Diamond Blackfan Anemia through Suppression of Nlk Expression

Mark C Wilkes, PhD, Kavitha Siva, PhD, Jacqueline D Mercado, Ethan Patrick Wentworth, Mallika Saxena, Jun Chen, MD PhD, Anupama Narla, MD, Bertil Glader, MD PhD, Shuo Lin, PhD, Manuel Serrano, PhD, Johan Flygare, MD PhD, Kathleen M. Sakamoto, MD PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 7.
https://doi.org/10.1182/blood-2020-137170
Published: 2020
Journal Articles

SATB1 Regulates GATA1 Protein Expression in Early Hematopoiesis and Is Deregulated in Diamond Blackfan Anemia

Mark C Wilkes, PhD, Hee-Don Chae, PhD, Ethan Patrick Wentworth, Toshinobu Nishimura, PhD, Anupama Narla, MD, Bertil Glader, MD PhD, Hiromitsu Nakauchi, Joanna Wysocka, Kathleen M. Sakamoto, MD PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 3.
https://doi.org/10.1182/blood-2020-140437
Published: 2020
Journal Articles

Baseline Characteristics of Patients in Peak: A Global, Longitudinal Registry of Patients with Pyruvate Kinase Deficiency

Rachael F. Grace, MD, Audra Boscoe, PhD, Chris Bowden, MD, Bertil Glader, MD PhD, Hitoshi Kanno, MDPhD, D. Mark Layton, MB BS, Eduard van Beers, MD PhD, Joan-Lluis Vives Corrons, MD PhD, Yan Yan, MS, Paola Bianchi, BSc, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 39–40.
https://doi.org/10.1182/blood-2020-136634
Published: 2020
Journal Articles

Targeting of Calbindin 1 (CALB1) Rescues Erythropoiesis in a Human Model of Diamond Blackfan Anemia: Implications for Novel Therapies

Nan of Wang, PhD, Corinne Marie Lavasseur, BA, Hongxia Yan, MS, Scott Younger, PhD, Bertil Glader, MD PhD, Kathleen M. Sakamoto, MD PhD, Lionel Blanc, PhD, Anupama Narla, MD
Journal: Blood
Blood (2020) 136 (Supplement 1): 4.
https://doi.org/10.1182/blood-2020-139823
Published: 2020
Journal Articles

Pharmacological Inhibition of Nemo-like Kinase Rescues mTOR-Mediated Translation and Primes Progenitors for Leucine-Stimulated Erythroid Expansion in Pre-Clinical Models of Diamond Blackfan Anemia

Mark C Wilkes, PhD, Jacqueline D Mercado, Mallika Saxena, Jun Chen, MD PhD, Kavitha Siva, PhD, Hee-Don Chae, PhD, Minyoung Youn, PhD, Ethan Patrick Wentworth, Kevin Jung, Ryan Sathianathen, Hiral Patel, Bertil Glader, MD PhD, Anupama Narla, MD, Claire E Repellin, PhD, Hanna T Gazda, MD PhD, Manuel Serrano, PhD, Johan Flygare, MD PhD, Kathleen M. Sakamoto, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 455.
https://doi.org/10.1182/blood-2019-129570
Published: 2019
Journal Articles

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Audra N. Boscoe, PhD, Yan Yan, MS, Elizabeth Hedgeman, PhD, Eduard J. van Beers, MD PhD, Hanny Al-Samkari, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Bertil Glader, MD PhD, Hassan M. Yaish, MD, Satheesh Chonat, MD, Jennifer A. Rothman, MD, Mukta Sharma, MD MPH, Nina Kollmar, MD, Christine M. Knoll, MD, Kevin H. M. Kuo, MDMSc,FRCPC, Janet L. Kwiatkowski, MD MSCE, Yves D. Pastore, MD, Alexis A Thompson, MD MPH, Yaddanapudi Ravindranath, MBBS, Ellis J. Neufeld, MD, Heng Wang, MD PhD, Susanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Madeleine M. Verhovsek, MD FRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Melissa A. McNaull, MD, Melissa J. Rose, DO, Dagmar Pospisilova, MD PhD, Jenny M. Despotovic, DO, Rachael F. Grace, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2175.
https://doi.org/10.1182/blood-2019-123069
Published: 2019
Journal Articles

Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency

Kathryn Addonizio, BA, Hanny Al-Samkari, MD, Bertil Glader, MD PhD, D Holmes Morton, MD, Satheesh Chonat, MD, Alexis A. Thompson, MD MPH, Kevin H. M. Kuo, MDMSc,FRCPC, Yaddanapudi Ravindranath, MBBS, Heng Wang, MD PhD, Jennifer A. Rothman, MD, Janet L. Kwiatkowski, MD MSCE, Charles Kung, PhD, Penelope A. Kosinski, MS, Hasan Al-Sayegh, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3515.
https://doi.org/10.1182/blood-2019-125248
Published: 2019
Journal Articles

Long-Term Safety and Efficacy of Mitapivat (AG-348), a Pyruvate Kinase Activator, in Patients with Pyruvate Kinase Deficiency: The DRIVE PK Study

Rachael F. Grace, MD, D. Mark Layton, MB BS, FRCP, FRCPCH, Frédéric Galactéros, MD PhD, Wilma Barcellini, MD, Eduard J. van Beers, MD PhD, Hassan M. Yaish, MD, Yaddanapudi Ravindranath, MBBS, Kevin H. M. Kuo, MDMSc,FRCPC, Sujit Sheth, MD, Janet L. Kwiatkowski, MD MSCE, Lei Hua, PhD, Peter F. Hawkins, PhD, Chris Mix, MD, Bertil Glader, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3512.
https://doi.org/10.1182/blood-2019-123406
Published: 2019
Journal Articles

An Ongoing Global, Longitudinal, Observational Study of Patients with Pyruvate Kinase Deficiency: The PEAK Registry

Rachael F. Grace, MD, Paola Bianchi, BSc, PhD, Bertil Glader, MD PhD, Andreas Glenthøj, MD PhD, Bryan Jones, PhD, Hitoshi Kanno, MD PhD, Kevin H. M. Kuo, MDMSc,FRCPC, D. Mark Layton, MB ChB, Eduard J. van Beers, MD PhD, Joan-Lluis Vives Corrons, MD PhD, Tu Xu, MS, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2223.
https://doi.org/10.1182/blood-2019-123059
Published: 2019
Journal Articles

Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Hanny Al-Samkari, MD, Eduard J. van Beers, MD PhD, D Holmes Morton, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Bertil Glader, MD PhD, Hassan M. Yaish, MD, Satheesh Chonat, MD, Kevin H. M. Kuo, MDMSc,FRCPC, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Dagmar Pospisilova, Prof MD PhD, Christine M. Knoll, MD, Janet L. Kwiatkowski, MD MSCE, Yves D. Pastore, MD, Alexis A. Thompson, MD MPH, Marcin W. Wlodarski, MD PhD, Yaddanapudi Ravindranath, MBBS, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Madeleine M. Verhovsek, MD FRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather Bradeen, Melissa A. McNaull, MD, Kathryn Addonizio, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 949.
https://doi.org/10.1182/blood-2019-125352
Published: 2019
Journal Articles

Erythrocyte Adenosine Deaminase Levels Are Elevated in Classic Diamond Blackfan Anemia but Not in the 5q- Syndrome

Anupama Narla, MD, Natalie Louise Davis, MD, Corinne LaVasseur, BA, Carolyn Wong, Bertil Glader, MD PhD
Journal: Blood
Blood (2016) 128 (22): 1501.
https://doi.org/10.1182/blood.V128.22.1501.1501
Published: 2016
Journal Articles

Role of Mir-34 Upregulation in Disruption of c-Myc, c-Myb and NOTCH Signaling in Diamond-Blackfan Anemia

Mark Wilkes, PhD, Elena Bibikova, PhD, Minyoung Youn, PhD, Alex Gia Lee, PhD, Ascia Eskin, M.S., Stanley Nelson, MD, Bertil Glader, MD PhD, Anupama Narla, MD, Kathleen M. Sakamoto, MD PhD
Journal: Blood
Blood (2016) 128 (22): 3895.
https://doi.org/10.1182/blood.V128.22.3895.3895
Published: 2016
Journal Articles

Iron Overload Is Highly Prevalent in All Disease Severity States in Pyruvate Kinase Deficiency (PKD)

Eduard J van Beers, MD PhD, Wilma Barcellini, Stefan W. Eber, MD, Janet L Kwiatkowski, MD, Jennifer A Rothman, MD, Ellis J Neufeld, MD PhD, Mukta Sharma, MD MPH, D Holmes Morton, MD, Bertil Glader, MD PhD, Nina Kollmar, MD, Hassan M. Yaish, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Yves D. Pastore, MD, Kevin Kuo, BSc, MD, Peter E. Newburger, MD, Marcin W Wlodarski, MD, Alexis A. Thompson, MD MPH, Yaddanapudi Ravindranath, Winfred C. Wang, MD, Heng Wang, MD, Joachim B. Kunz, MD, Vicky R. Breakey, BSc, MD MD FRCPC, Melissa J. Rose, DO, Melissa Rhodes, MD, Heather A Bradeen, MD, Sujit Sheth, MD, Dongjing Guo, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2016) 128 (22): 2430.
https://doi.org/10.1182/blood.V128.22.2430.2430
Published: 2016
Journal Articles

The Phenotypic Spectrum of Pyruvate Kinase Deficiency (PKD) from the PKD Natural History Study (NHS): Description of Four Severity Groups By Anemia Status

Rachael F. Grace, MD, D Holmes Morton, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Jenny M Depsotovic, DO, Christine M. Knoll, MD, Hassan M. Yaish, MD, Peter E. Newburger, MD, Jennifer Rothman, MD, Alexis A. Thompson, MD, Yaddanapudi Ravindranath, MBBS, Joachim Kunz, MD, Eduard J van Beers, MD PhD, Marcin W Wlodarski, MD, Kerri A Nottage, MD MPH, Heng Wang, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Yves D. Pastore, MD, Patricia J. Giardina, MD, Melissa Rhodes, MD, Kevin Kuo, BSc, MD, Vicky R. Breakey, BSc, MD MD FRCPC, Ellis J. Neufeld, MD PhD, Dongjing Guo, MS, Wendy B. London, PhD, Jill Falcone, Bertil Glader, MD PhD
Journal: Blood
Blood (2015) 126 (23): 2136.
https://doi.org/10.1182/blood.V126.23.2136.2136
Published: 2015
Journal Articles

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

Paola Bianchi, BSC, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, D Holmes Morton, MD, Wilma Barcellini, MD, Bertil Glader, MD PhD, Stefan W. Eber, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Hassan M. Yaish, MD, Peter E. Newburger, MD, Jennifer Rothman, MD, Alexis A. Thompson, MD, Yaddanapudi Ravindranath, MBBS, Kerri A Nottage, MD MPH, Heng Wang, MD, Eduard J. van Beers, MD PhD, Joachim Kunz, MD, Marcin W Wlodarski, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Yves D. Pastore, MD, Patricia J. Giardina, MD, Melissa Rhodes, MD, Kevin Kuo, BSc, MD, Dongjing Guo, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2015) 126 (23): 3337.
https://doi.org/10.1182/blood.V126.23.3337.3337
Published: 2015
Journal Articles

DRIVE PK: A Phase 2 Trial of AG-348 in Patients with Pyruvate Kinase Deficiency

Ann Barbier, Bruce Silver, Elizabeth Merica, Marvin Cohen, Charles Kung, Hua Yang, PhD, Rachael F. Grace, MD, Bertil Glader, MD PhD, Sam Agresta, MD
Journal: Blood
Blood (2015) 126 (23): 4548.
https://doi.org/10.1182/blood.V126.23.4548.4548
Published: 2015
Journal Articles

Loss of FoxM1 Promotes Erythroid Differentiation through Increased Proliferation of Erythroid Progenitors

Minyoung Youn, PhD, Elena Bibikova, PhD, Corinne LaVasseur, BA, Bertil Glader, MD PhD, Kathleen Sakamoto, MD PhD, Anupama Narla, MD
Journal: Blood
Blood (2015) 126 (23): 933.
https://doi.org/10.1182/blood.V126.23.933.933
Published: 2015
Journal Articles

Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia

Mammen Puliyel, M.B., B.S., Patrick G. Gallagher, MD, Vasilios Berdoukas, MBBS, Bertil Glader, MD, PhD, Thomas Coates, MD
Journal: Blood
Blood (2013) 122 (21): 947.
https://doi.org/10.1182/blood.V122.21.947.947
Published: 2013
Journal Articles

Cellular Immune Responses To Vector In a Gene Therapy Trial For Hemophilia B Using An AAV8 Self-Complementary Factor IX Vector

Etiena Basner-Tschakarjan, MD PhD, Federico Mingozzi, PhD, Yifeng Chen, MD, Amit Nathwani, MD, PhD, Edward Tuddenham, MD, Anne Riddell, BSc, Catherine Ng, MS, Pradip Rustagi, MD, Bertil Glader, MD, PhD, Mark Kay, MD, PhD, Ulrike M. Reiss, MD, Arthur W. Nienhuis, MD, Andrew Davidoff, MD, Katherine A. High, MD
Journal: Blood
Blood (2013) 122 (21): 717.
https://doi.org/10.1182/blood.V122.21.717.717
Published: 2013