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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

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

Mosaic DNMT3A Germline Mutation As a Model for Mutant DNMT3A Competitive Advantage in the Blood Lineage

Ayala Tovy, PhD, Hyun Jung Park, PhD, Jaime M. Reyes, BS, Anna Guzman, Rachel E. Rau, MD, Aaron Jeffries, PhD, Mill Jonnathan, PhD, Emma Baple, PhD, Andrew Crosby, MD, Mia Petljak, Henry Lee-Six, PhD, Heng Wang, MD PhD, Xin Baozhong, MD PhD, Mathijs A. Sanders, PhD, Peter J. Campbell, PhD, Michael Stratton, Wei Li, Margaret Goodell, PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 173.
https://doi.org/10.1182/blood-2018-173
Published: 2018
Journal Articles

Health Related Quality of Life and Fatigue in Patients with Pyruvate Kinase Deficiency

Eduard J. Van Beers, MD PhD, Kevin H. M. Kuo, MD MSc, FRCPC, D. Holmes Morton, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Bertil Glader, MD, Hassan M. Yaish, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Dagmar Pospisilova, Prof. MD PhD, Christine M. Knoll, MD, Janet L. Kwiatkowski, MD, Yves D. Pastore, MD, Alexis A. Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc, MD FRCPC, Madeleine M Verhovsek, MD FRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa A. McNaull, MD, Kathryn Addonizio, BA, David N Williams, Rachael F. Grace, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 4807.
https://doi.org/10.1182/blood-2018-99-113206
Published: 2018
Journal Articles

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Paola Bianchi, BSc, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, Richard van Wijk, PhD, Eduard J. Van Beers, MD, Hassan M. Yaish, MD, Janet L. Kwiatkowski, MD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Oliver Andres, MD, Wilma Barcellini, MD, D. Holmes Morton, MD, Bertil Glader, MD, Stefan W. Eber, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Kevin H.M. Kuo, MD MSc, FRCPC, Dagmar Pospisilova, Prof. MD PhD, Yves D. Pastore, MD, Alexis A Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa N. McNaull, MD, Gabrielle P. Ooyama, Nolan Neu, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 3479.
https://doi.org/10.1182/blood.V130.Suppl_1.3479.3479
Published: 2017
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

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

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