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

Author

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, and Barcellini, Wilma

Published
2018
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4. Health-Related Quality of Life and Fatigue in Children and Adults with Pyruvate Kinase Deficiency

Author

Poli Van Creveldkliniek Medisch, Al-Samkari, Hanny, van Beers, Eduard J, Morton, D Holmes, Eber, Stefan, Chonat, Satheesh, Kuo, Kevin H M, Kollmar, Nina, Wang, Heng, Breakey, Vicky, Sheth, Sujit, Sharma, Mukta, Forbes, Peter W, Klaassen, Robert, Grace, Rachael F, Poli Van Creveldkliniek Medisch, Al-Samkari, Hanny, van Beers, Eduard J, Morton, D Holmes, Eber, Stefan, Chonat, Satheesh, Kuo, Kevin H M, Kollmar, Nina, Wang, Heng, Breakey, Vicky, Sheth, Sujit, Sharma, Mukta, Forbes, Peter W, Klaassen, Robert, and Grace, Rachael F

Published
2022

6. Pyruvate kinase deficiency in children

Author

Chonat, Satheesh, primary, Eber, Stefan W., additional, Holzhauer, Susanne, additional, Kollmar, Nina, additional, Morton, D. Holmes, additional, Glader, Bertil, additional, Neufeld, Ellis J., additional, Yaish, Hassan M., additional, Rothman, Jennifer A., additional, Sharma, Mukta, additional, Ravindranath, Yaddanapudi, additional, Wang, Heng, additional, Breakey, Vicky R., additional, Sheth, Sujit, additional, Bradeen, Heather A., additional, Al‐Sayegh, Hasan, additional, London, Wendy B., additional, and Grace, Rachael F., additional

Published
2021
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7. Characterization of the severe phenotype of pyruvate kinase deficiency

Author

Poli Van Creveldkliniek Medisch, 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., Pospíšilová, Dagmar, Knoll, Christine M., Kwiatkowski, Janet L., Pastore, Yves D., Thompson, Alexis A., Wlodarski, Marcin W., Ravindranath, Yaddanapudi, Rothman, Jennifer A., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Verhovsek, Madeleine M., Kunz, Joachim, Sheth, Sujit, Sharma, Mukta, Rose, Melissa J., Bradeen, Heather A., McNaull, Melissa N., Addonizio, Kathryn, Al-Sayegh, Hasan, London, Wendy B., Grace, Rachael F., Poli Van Creveldkliniek Medisch, 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., Pospíšilová, Dagmar, Knoll, Christine M., Kwiatkowski, Janet L., Pastore, Yves D., Thompson, Alexis A., Wlodarski, Marcin W., Ravindranath, Yaddanapudi, Rothman, Jennifer A., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Verhovsek, Madeleine M., Kunz, Joachim, Sheth, Sujit, Sharma, Mukta, Rose, Melissa J., Bradeen, Heather A., McNaull, Melissa N., Addonizio, Kathryn, Al-Sayegh, Hasan, London, Wendy B., and Grace, Rachael F.

Published
2020

8. Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency

Author

Poli Van Creveldkliniek Medisch, CDL Arcadia, Circulatory Health, Bianchi, Paola, Fermo, Elisa, Lezon-Geyda, Kimberly, van Beers, Eduard, Morton, D Holmes, Barcellini, Wilma, Glader, Bertil, Chonat, Satheesh, Ravindranath, Yaddanapudi, Newburger, Peter, Kollmar, Nina, Despotovic, Jenny, Verhovsek, Madeleine, Sharma, Mukta, Kwiatkowski, Janet L, Kuo, Kevin H M, Wlodarski, Marcin, Yaish, Hassan, Holzhauer, Susanne, Wang, Heng, Kunz, Joachim, Addonizio, Kathryn, Al-Sayegh, Hasan, London, Wendy, Andres, Oliver, van Wijk, Richard, Gallagher, Patrick G, Grace, Rachael, Poli Van Creveldkliniek Medisch, CDL Arcadia, Circulatory Health, Bianchi, Paola, Fermo, Elisa, Lezon-Geyda, Kimberly, van Beers, Eduard, Morton, D Holmes, Barcellini, Wilma, Glader, Bertil, Chonat, Satheesh, Ravindranath, Yaddanapudi, Newburger, Peter, Kollmar, Nina, Despotovic, Jenny, Verhovsek, Madeleine, Sharma, Mukta, Kwiatkowski, Janet L, Kuo, Kevin H M, Wlodarski, Marcin, Yaish, Hassan, Holzhauer, Susanne, Wang, Heng, Kunz, Joachim, Addonizio, Kathryn, Al-Sayegh, Hasan, London, Wendy, Andres, Oliver, van Wijk, Richard, Gallagher, Patrick G, and Grace, Rachael

Published
2020

10. Characterization of the severe phenotype of pyruvate kinase deficiency

Author

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

Published
2020
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11. Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

Author

Bianchi, Paola, primary, Fermo, Elisa, additional, Lezon‐Geyda, Kimberly, additional, Beers, Eduard J., additional, Morton, Holmes D., additional, Barcellini, Wilma, additional, Glader, Bertil, additional, Chonat, Satheesh, additional, Ravindranath, Yaddanapudi, additional, Newburger, Peter E., additional, Kollmar, Nina, additional, Despotovic, Jenny M., additional, Verhovsek, Madeleine, additional, Sharma, Mukta, additional, Kwiatkowski, Janet L., additional, Kuo, Kevin H. M., additional, Wlodarski, Marcin W., additional, Yaish, Hassan M., additional, Holzhauer, Susanne, additional, Wang, Heng, additional, Kunz, Joachim, additional, Addonizio, Kathryn, additional, Al‐Sayegh, Hasan, additional, London, Wendy B., additional, Andres, Oliver, additional, Wijk, Richard, additional, Gallagher, Patrick G., additional, and Grace, Rachael F. F., additional

Published
2020
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12. Prevalence and management of iron overload in pyruvate kinase deficiency : report from the Pyruvate Kinase Deficiency Natural History Study

Author

van Beers, Eduard J., van Straaten, Stephanie, Morton, D. Holmes, Barcellini, Wilma, Eber, Stefan W., Glader, Bertil, Yaish, Hassan M., Chonat, Satheesh, Kwiatkowski, Janet L., Rothman, Jennifer A., Sharma, Mukta, Neufeld, Ellis J., Sheth, Sujit, Despotovic, Jenny M., Kollmar, Nina, Pospíšilová, Dagmar, Knoll, Christine M., Kuo, Kevin, Pastore, Yves D., Thompson, Alexis A., Newburger, Peter E., Ravindranath, Yaddanapudi, Wang, Winfred C., Wlodarski, Marcin W., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Verhovsek, Madeleine, Kunz, Joachim, McNaull, Melissa A., Rose, Melissa J., Bradeen, Heather A., Addonizio, Kathryn, Li, Anran, Al-Sayegh, Hasan, London, Wendy B., Grace, Rachael F., van Beers, Eduard J., van Straaten, Stephanie, Morton, D. Holmes, Barcellini, Wilma, Eber, Stefan W., Glader, Bertil, Yaish, Hassan M., Chonat, Satheesh, Kwiatkowski, Janet L., Rothman, Jennifer A., Sharma, Mukta, Neufeld, Ellis J., Sheth, Sujit, Despotovic, Jenny M., Kollmar, Nina, Pospíšilová, Dagmar, Knoll, Christine M., Kuo, Kevin, Pastore, Yves D., Thompson, Alexis A., Newburger, Peter E., Ravindranath, Yaddanapudi, Wang, Winfred C., Wlodarski, Marcin W., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Verhovsek, Madeleine, Kunz, Joachim, McNaull, Melissa A., Rose, Melissa J., Bradeen, Heather A., Addonizio, Kathryn, Li, Anran, Al-Sayegh, Hasan, London, Wendy B., and Grace, Rachael F.

Published
2019

13. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

Author

Poli VCK, UMC Utrecht, Poli Van Creveldkliniek Medisch, CDL Rode cel, Circulatory Health, van Beers, Eduard J., van Straaten, Stephanie, Morton, D. Holmes, Barcellini, Wilma, Eber, Stefan W., Glader, Bertil, Yaish, Hassan M., Chonat, Satheesh, Kwiatkowski, Janet L., Rothman, Jennifer A., Sharma, Mukta, Neufeld, Ellis J., Sheth, Sujit, Despotovic, Jenny M., Kollmar, Nina, Pospíšilová, Dagmar, Knoll, Christine M., Kuo, Kevin, Pastore, Yves D., Thompson, Alexis A., Newburger, Peter E., Ravindranath, Yaddanapudi, Wang, Winfred C., Wlodarski, Marcin W., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Verhovsek, Madeleine, Kunz, Joachim, McNaull, Melissa A., Rose, Melissa J., Bradeen, Heather A., Addonizio, Kathryn, Li, Anran, Al-Sayegh, Hasan, London, Wendy B., Grace, Rachael F., Poli VCK, UMC Utrecht, Poli Van Creveldkliniek Medisch, CDL Rode cel, Circulatory Health, van Beers, Eduard J., van Straaten, Stephanie, Morton, D. Holmes, Barcellini, Wilma, Eber, Stefan W., Glader, Bertil, Yaish, Hassan M., Chonat, Satheesh, Kwiatkowski, Janet L., Rothman, Jennifer A., Sharma, Mukta, Neufeld, Ellis J., Sheth, Sujit, Despotovic, Jenny M., Kollmar, Nina, Pospíšilová, Dagmar, Knoll, Christine M., Kuo, Kevin, Pastore, Yves D., Thompson, Alexis A., Newburger, Peter E., Ravindranath, Yaddanapudi, Wang, Winfred C., Wlodarski, Marcin W., Wang, Heng, Holzhauer, Susanne, Breakey, Vicky R., Verhovsek, Madeleine, Kunz, Joachim, McNaull, Melissa A., Rose, Melissa J., Bradeen, Heather A., Addonizio, Kathryn, Li, Anran, Al-Sayegh, Hasan, London, Wendy B., and Grace, Rachael F.

Published
2019

14. Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Author

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

Published
2019
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15. Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Author

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

Published
2019
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16. Clinical spectrum of pyruvate kinase deficiency: Data from the pyruvate kinase deficiency natural history study

Author

Poli Van Creveldkliniek Medisch, 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, Poli Van Creveldkliniek Medisch, 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, and Barcellini, Wilma

Published
2018

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

Author

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

Published
2018
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18. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

Author

van Beers, Eduard J., primary, van Straaten, Stephanie, additional, Morton, D. Holmes, additional, Barcellini, Wilma, additional, Eber, Stefan W., additional, Glader, Bertil, additional, Yaish, Hassan M., additional, Chonat, Satheesh, additional, Kwiatkowski, Janet L., additional, Rothman, Jennifer A., additional, Sharma, Mukta, additional, Neufeld, Ellis J., additional, Sheth, Sujit, additional, Despotovic, Jenny M., additional, Kollmar, Nina, additional, Pospíšilová, Dagmar, additional, Knoll, Christine M., additional, Kuo, Kevin, additional, Pastore, Yves D., additional, Thompson, Alexis A., additional, Newburger, Peter E., additional, Ravindranath, Yaddanapudi, additional, Wang, Winfred C., additional, Wlodarski, Marcin W., additional, Wang, Heng, additional, Holzhauer, Susanne, additional, Breakey, Vicky R., additional, Verhovsek, Madeleine, additional, Kunz, Joachim, additional, McNaull, Melissa A., additional, Rose, Melissa J., additional, Bradeen, Heather A., additional, Addonizio, Kathryn, additional, Li, Anran, additional, Al-Sayegh, Hasan, additional, London, Wendy B., additional, and Grace, Rachael F., additional

Published
2018
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19. Iron Overload Is Highly Prevalent in All Disease Severity States in Pyruvate Kinase Deficiency (PKD)

Author

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

Published
2016
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20. Health-Related Quality of Life and Fatigue in Children and Adults with Pyruvate Kinase Deficiency

Author

Al-Samkari, Hanny, van Beers, Eduard J., Morton, D. Holmes, Eber, Stefan W., Chonat, Satheesh, Kuo, Kevin H.M., Kollmar, Nina, Wang, Heng, Breakey, Vicky R., Sheth, Sujit, Sharma, Mukta, Forbes, PeterW., Klaassen, Robert J., and Grace, Rachael F.

Abstract

Pyruvate kinase deficiency (PKD)is the most common cause of congenital non-spherocytic hemolytic anemia. Although recognition of the disease spectrum has recently expanded,data describing its impact on health-related quality of life (HRQoL) are limited. In this prospective international cohort of 254 patients (131 adults and 123 children) with PKD, we assessed the disease impact on HRQoL(EuroQL-5D, PedsQL, FACT-An) and fatigue (PROMIS Fatigue, PedsFACIT-F) using validated measures. Significant variability in HRQoLand fatigue was reported for both adults and children although individual scores were stable over a 2-year interval.While adults who were regularlytransfused reported worse HRQoL and fatigue compared to those who were not regularlytransfused (EQ-VAS 58 vs. 80, p=0.01), this difference was not seen in children. Regularly transfused adults reported lower physical, emotional, and functional well-being and more anemia symptoms. Both HRQoL and fatigue significantly differed in children by genotype with the worst scores in those with two severe PKLRmutations; this difference was not seen in adults. However, iron chelation was associated with significantly worse HRQoLscoresin both children and adults. Pulmonary hypertension was also associated with significantly worse HRQoL. In PKD-specific symptom assessment, 59% of adultsand 35% of children reported that their jaundice upset them,identifying this as an important symptom for consideration. While current treatments for PK deficiency are limited to supportive care, new therapies are currently in clinical trials. Understanding the impact of PKD on HRQoL is important to assess the utility of these treatments. (Clinicaltrials.gov number NCT02053480)

Published
2021
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21. Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Author

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., and Grace, Rachael F.

Abstract

Background:Pyruvate kinase (PK) deficiency is the most common enzyme defect of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia. PK deficiency is autosomal recessive, caused by both homozygous and compound heterozygous mutations in the PKLRgene with >300 mutations reported.

Published
2017
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22. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study.

Author

van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospíšilová D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, and Grace RF

Subjects
Biomarkers, Blood Transfusion, DNA Mutational Analysis, Disease Management, Humans, Iron metabolism, Iron Overload diagnosis, Iron Overload epidemiology, Magnetic Resonance Imaging, Mutation, Prevalence, Iron Overload etiology, Iron Overload metabolism, Pyruvate Kinase deficiency
Published
2019
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