Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Grace, Rachael F. ; Bianchi, Paola ; van Beers, Eduard J. ; Eber, Stefan W. ; Glader, Bertil ; Yaish, Hassan M. ; Despotovic, Jenny M. ; Rothman, Jennifer A. ; Sharma, Mukta ; McNaull, Melissa M. ; Fermo, Elisa ; Lezon-Geyda, Kimberly ; Morton, D. Holmes ; Neufeld, Ellis J. ; Chonat, Satheesh ; Kollmar, Nina ; Knoll, Christine M. ; Kuo, Kevin ; Kwiatkowski, Janet L. ; Pospíšilová, Dagmar ; Pastore, Yves D. ; Thompson, Alexis A. ; Newburger, Peter E. ; Ravindranath, Yaddanapudi ; Wang, Winfred C. ; Wlodarski, Marcin W. ; Wang, Heng ; Holzhauer, Susanne ; Breakey, Vicky R. ; Kunz, Joachim ; Sheth, Sujit ; Rose, Melissa J. ; Bradeen, Heather A. ; Neu, Nolan ; Guo, Dongjing ; Al-Sayegh, Hasan ; London, Wendy B. ; Gallagher, Patrick G. ; Zanella, Alberto ; Barcellini, Wilma

United States: Elsevier Inc

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Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency

Bianchi, Paola ; Fermo, Elisa ; Kuo, Kevin H.M. ; Pospíšilová, Dagmar ; Glenthoej, Andreas ; Lander, Carl ; Van Beers, Eduard J. ; Glader, Bertil ; Vives Corrons, Joan-Lluis ; Eber, Stefan W ; Yan, Yan ; McGee, Bryan ; Ford, Janet H ; Yilmaz, Saliha ; Grace, Rachael F.

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

Bianchi, Paola ; Fermo, Elisa ; Lezon-Geyda, Kimberly ; Gallagher, Patrick G. ; Morton, D Holmes ; Barcellini, Wilma ; Glader, Bertil ; Eber, Stefan W. ; Despotovic, Jenny M. ; Knoll, Christine M. ; Yaish, Hassan M. ; Newburger, Peter E. ; Rothman, Jennifer ; Thompson, Alexis A. ; Ravindranath, Yaddanapudi ; Nottage, Kerri A ; Wang, Heng ; van Beers, Eduard J. ; Kunz, Joachim ; Wlodarski, Marcin W ; Sharma, Mukta ; Rose, Melissa J. ; Pastore, Yves D. ; Giardina, Patricia J. ; Rhodes, Melissa ; Kuo, Kevin ; Guo, Dongjing ; London, Wendy B. ; Grace, Rachael F.

Elsevier Inc

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Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Al-Samkari, Hanny ; van Beers, Eduard J. ; Morton, D Holmes ; Barcellini, Wilma ; Eber, Stefan W. ; Glader, Bertil ; Yaish, Hassan M. ; Chonat, Satheesh ; Kuo, Kevin H.M. ; Kollmar, Nina ; Despotovic, Jenny M. ; Pospisilova, Dagmar ; Knoll, Christine M. ; Kwiatkowski, Janet L. ; Pastore, Yves D. ; Thompson, Alexis A. ; Wlodarski, Marcin W. ; Ravindranath, Yaddanapudi ; Rothman, Jennifer A. ; Wang, Heng ; Holzhauer, Suzanne ; Breakey, Vicky R. ; Verhovsek, Madeleine M. ; Kunz, Joachim B. ; Sheth, Sujit ; Sharma, Mukta ; Rose, Melissa J. ; Bradeen, Heather ; McNaull, Melissa A. ; Addonizio, Kathryn ; Al-Sayegh, Hasan ; London, Wendy B. ; Grace, Rachael F.

Elsevier Inc

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Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Boscoe, Audra N. ; Yan, Yan ; Hedgeman, Elizabeth ; van Beers, Eduard J. ; Al-Samkari, Hanny ; Barcellini, Wilma ; Eber, Stefan W. ; Glader, Bertil ; Yaish, Hassan M. ; Chonat, Satheesh ; Rothman, Jennifer A. ; Sharma, Mukta ; Kollmar, Nina ; Knoll, Christine M. ; Kuo, Kevin H.M. ; Kwiatkowski, Janet L. ; Pastore, Yves D. ; Thompson, Alexis A ; Ravindranath, Yaddanapudi ; Neufeld, Ellis J. ; Wang, Heng ; Holzhauer, Susanne ; Breakey, Vicky R. ; Verhovsek, Madeleine M. ; Kunz, Joachim B. ; Sheth, Sujit ; McNaull, Melissa A. ; Rose, Melissa J. ; Pospisilova, Dagmar ; Despotovic, Jenny M. ; Grace, Rachael F.

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

Van Beers, Eduard J. ; Kuo, Kevin H.M. ; Morton, D. Holmes ; Barcellini, Wilma ; Eber, Stefan W. ; Glader, Bertil ; Yaish, Hassan M. ; Chonat, Satheesh ; Kollmar, Nina ; Despotovic, Jenny M. ; Pospisilova, Dagmar ; Knoll, Christine M. ; Kwiatkowski, Janet L. ; Pastore, Yves D. ; Thompson, Alexis A. ; Wang, Winfred ; Wlodarski, Marcin W. ; Newburger, Peter E. ; Ravindranath, Yaddanapudi ; Rothman, Jennifer A. ; Wang, Heng ; Holzhauer, Suzanne ; Breakey, Vicky R. ; Verhovsek, Madeleine M ; Kunz, Joachim B. ; Sheth, Sujit ; Sharma, Mukta ; Rose, Melissa J. ; Bradeen, Heather A. ; McNaull, Melissa A. ; Addonizio, Kathryn ; Williams, David N ; Grace, Rachael F.

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

Bianchi, Paola ; Fermo, Elisa ; Lezon-Geyda, Kimberly ; Gallagher, Patrick G. ; van Wijk, Richard ; Van Beers, Eduard J. ; Yaish, Hassan M. ; Kwiatkowski, Janet L. ; Newburger, Peter E. ; Ravindranath, Yaddanapudi ; Andres, Oliver ; Barcellini, Wilma ; Morton, D. Holmes ; Glader, Bertil ; Eber, Stefan W. ; Chonat, Satheesh ; Kollmar, Nina ; Despotovic, Jenny M. ; Knoll, Christine M. ; Kuo, Kevin H.M. ; Pospisilova, Dagmar ; Pastore, Yves D. ; Thompson, Alexis A ; Wang, Winfred ; Wlodarski, Marcin W. ; Rothman, Jennifer A. ; Wang, Heng ; Holzhauer, Suzanne ; Breakey, Vicky R. ; Kunz, Joachim B. ; Sheth, Sujit ; Sharma, Mukta ; Rose, Melissa J. ; Bradeen, Heather A. ; McNaull, Melissa N. ; Ooyama, Gabrielle P. ; Neu, Nolan ; Al-Sayegh, Hasan ; London, Wendy B. ; Grace, Rachael F.

Elsevier Inc

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

van Beers, Eduard J ; Barcellini, Wilma ; Eber, Stefan W. ; Kwiatkowski, Janet L ; Rothman, Jennifer A ; Neufeld, Ellis J ; Sharma, Mukta ; Morton, D Holmes ; Glader, Bertil ; Kollmar, Nina ; Yaish, Hassan M. ; Despotovic, Jenny M. ; Knoll, Christine M. ; Pastore, Yves D. ; Kuo, Kevin ; Newburger, Peter E. ; Wlodarski, Marcin W ; Thompson, Alexis A. ; Ravindranath, Yaddanapudi ; Wang, Winfred C. ; Wang, Heng ; Kunz, Joachim B. ; Breakey, Vicky R. ; Rose, Melissa J. ; Rhodes, Melissa ; Bradeen, Heather A ; Sheth, Sujit ; Guo, Dongjing ; London, Wendy B. ; Grace, Rachael F.

Elsevier Inc

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

Grace, Rachael F. ; Morton, D Holmes ; Barcellini, Wilma ; Eber, Stefan W. ; Depsotovic, Jenny M ; Knoll, Christine M. ; Yaish, Hassan M. ; Newburger, Peter E. ; Rothman, Jennifer ; Thompson, Alexis A. ; Ravindranath, Yaddanapudi ; Kunz, Joachim ; van Beers, Eduard J ; Wlodarski, Marcin W ; Nottage, Kerri A ; Wang, Heng ; Sharma, Mukta ; Rose, Melissa J. ; Pastore, Yves D. ; Giardina, Patricia J. ; Rhodes, Melissa ; Kuo, Kevin ; Breakey, Vicky R. ; Neufeld, Ellis J. ; Guo, Dongjing ; London, Wendy B. ; Falcone, Jill ; Glader, Bertil

Elsevier Inc

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Hereditary Spherocytosis and Elliptocytosis Erythrocytes Show a Normal Transbilayer Phospholipid Distribution

de Jong, Kitty ; Larkin, Sandra K. ; Eber, Stefan ; Franck, Paul F.H. ; Roelofsen, Ben ; Kuypers, Frans A.

Washington, DC: Elsevier Inc

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