Literature DB >> 30213831

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

Eduard J van Beers1, Stephanie van Straaten1, D Holmes Morton2, Wilma Barcellini3, Stefan W Eber4, Bertil Glader5, Hassan M Yaish6, Satheesh Chonat7, Janet L Kwiatkowski8, Jennifer A Rothman9, Mukta Sharma10, Ellis J Neufeld11, Sujit Sheth12, Jenny M Despotovic13, Nina Kollmar14, Dagmar Pospíšilová15, Christine M Knoll16, Kevin Kuo17, Yves D Pastore18, Alexis A Thompson19, Peter E Newburger20, Yaddanapudi Ravindranath21, Winfred C Wang11, Marcin W Wlodarski22, Heng Wang23, Susanne Holzhauer24, Vicky R Breakey25, Madeleine Verhovsek25, Joachim Kunz26, Melissa A McNaull27, Melissa J Rose28, Heather A Bradeen29, Kathryn Addonizio30, Anran Li30, Hasan Al-Sayegh30, Wendy B London30, Rachael F Grace31.   

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Year:  2018        PMID: 30213831      PMCID: PMC6355506          DOI: 10.3324/haematol.2018.196295

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


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  7 in total

1.  Randomized phase II trial of deferasirox (Exjade, ICL670), a once-daily, orally-administered iron chelator, in comparison to deferoxamine in thalassemia patients with transfusional iron overload.

Authors:  Antonio Piga; Renzo Galanello; Gian Luca Forni; Maria Domenica Cappellini; Raffaella Origa; Antonietta Zappu; Guido Donato; Elena Bordone; Antonella Lavagetto; Laura Zanaboni; Romain Sechaud; Nicola Hewson; John M Ford; Herbert Opitz; Daniele Alberti
Journal:  Haematologica       Date:  2006-07       Impact factor: 9.941

Review 2.  Iron-chelating therapy for transfusional iron overload.

Authors:  Gary M Brittenham
Journal:  N Engl J Med       Date:  2011-01-13       Impact factor: 91.245

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

Authors:  Rachael F Grace; Paola Bianchi; Eduard J van Beers; Stefan W Eber; Bertil Glader; Hassan M Yaish; Jenny M Despotovic; Jennifer A Rothman; Mukta Sharma; Melissa M McNaull; Elisa Fermo; Kimberly Lezon-Geyda; D Holmes Morton; Ellis J Neufeld; Satheesh Chonat; Nina Kollmar; Christine M Knoll; Kevin Kuo; Janet L Kwiatkowski; Dagmar Pospíšilová; Yves D Pastore; Alexis A Thompson; Peter E Newburger; Yaddanapudi Ravindranath; Winfred C Wang; Marcin W Wlodarski; Heng Wang; Susanne Holzhauer; Vicky R Breakey; Joachim Kunz; Sujit Sheth; Melissa J Rose; Heather A Bradeen; Nolan Neu; Dongjing Guo; Hasan Al-Sayegh; Wendy B London; Patrick G Gallagher; Alberto Zanella; Wilma Barcellini
Journal:  Blood       Date:  2018-03-16       Impact factor: 22.113

4.  Tailoring iron chelation by iron intake and serum ferritin: the prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias.

Authors:  Maria Domenica Cappellini; John Porter; Amal El-Beshlawy; Chi-Kong Li; John F Seymour; Mohsen Elalfy; Norbert Gattermann; Stéphane Giraudier; Jong-Wook Lee; Lee Lee Chan; Kai-Hsin Lin; Christian Rose; Ali Taher; Swee Lay Thein; Vip Viprakasit; Dany Habr; Gabor Domokos; Bernard Roubert; Antonis Kattamis
Journal:  Haematologica       Date:  2009-11-30       Impact factor: 9.941

5.  Liver iron concentrations and urinary hepcidin in beta-thalassemia.

Authors:  Raffaella Origa; Renzo Galanello; Tomas Ganz; Nicolina Giagu; Liliana Maccioni; Gavino Faa; Elizabeta Nemeth
Journal:  Haematologica       Date:  2007-05       Impact factor: 9.941

Review 6.  Iron chelation therapy in transfusion-dependent thalassemia patients: current strategies and future directions.

Authors:  Antoine N Saliba; Afif R Harb; Ali T Taher
Journal:  J Blood Med       Date:  2015-06-17

Review 7.  Erythrocyte pyruvate kinase deficiency: 2015 status report.

Authors:  Rachael F Grace; Alberto Zanella; Ellis J Neufeld; D Holmes Morton; Stefan Eber; Hassan Yaish; Bertil Glader
Journal:  Am J Hematol       Date:  2015-08-14       Impact factor: 10.047

  7 in total
  15 in total

1.  Diagnosis and clinical management of enzymopathies.

Authors:  Lucio Luzzatto
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

2.  Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo; Kimberly Lezon-Geyda; Eduard J van Beers; Holmes D Morton; Wilma Barcellini; Bertil Glader; Satheesh Chonat; Yaddanapudi Ravindranath; Peter E Newburger; Nina Kollmar; Jenny M Despotovic; Madeleine Verhovsek; Mukta Sharma; Janet L Kwiatkowski; Kevin H M Kuo; Marcin W Wlodarski; Hassan M Yaish; Susanne Holzhauer; Heng Wang; Joachim Kunz; Kathryn Addonizio; Hasan Al-Sayegh; Wendy B London; Oliver Andres; Richard van Wijk; Patrick G Gallagher; Rachael F F Grace
Journal:  Am J Hematol       Date:  2020-03-06       Impact factor: 10.047

3.  Novel Compound Heterozygous PKLR Mutation Induced Pyruvate Kinase Deficiency With Persistent Pulmonary Hypertension in a Neonate: A Case Report.

Authors:  Sha Lin; Xintian Hua; Jinrong Li; Yifei Li
Journal:  Front Cardiovasc Med       Date:  2022-04-26

4.  Comorbidities and complications in adults with pyruvate kinase deficiency.

Authors:  Audra N Boscoe; Yan Yan; Elizabeth Hedgeman; Eduard J van Beers; Hanny Al-Samkari; Wilma Barcellini; Stefan W Eber; Bertil Glader; Hassan M Yaish; Satheesh Chonat; Mukta Sharma; Kevin H M Kuo; Ellis J Neufeld; Heng Wang; Madeleine Verhovsek; Sujit Sheth; Rachael F Grace
Journal:  Eur J Haematol       Date:  2021-01-24       Impact factor: 2.997

Review 5.  Mitapivat, a novel pyruvate kinase activator, for the treatment of hereditary hemolytic anemias.

Authors:  Hanny Al-Samkari; Eduard J van Beers
Journal:  Ther Adv Hematol       Date:  2021-12-21

Review 6.  Congenital Hemolytic Anemias: Is There a Role for the Immune System?

Authors:  Anna Zaninoni; Elisa Fermo; Cristina Vercellati; Anna Paola Marcello; Wilma Barcellini; Paola Bianchi
Journal:  Front Immunol       Date:  2020-06-23       Impact factor: 7.561

7.  Development of the pyruvate kinase deficiency diary and pyruvate kinase deficiency impact assessment: Disease-specific assessments.

Authors:  Sam Salek; Audra N Boscoe; Sarah Piantedosi; Shayna Egan; Christopher J Evans; Ted Wells; Jennifer Cohen; Robert J Klaassen; Rachael Grace; Michael Storm
Journal:  Eur J Haematol       Date:  2020-02-24       Impact factor: 2.997

8.  A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.

Authors:  Karolina Maciak; Anna Adamowicz-Salach; Jaroslaw Poznanski; Monika Gora; Jan Fronk; Beata Burzynska
Journal:  Front Genet       Date:  2020-10-28       Impact factor: 4.599

Review 9.  Molecular heterogeneity of pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo
Journal:  Haematologica       Date:  2020-09-01       Impact factor: 9.941

10.  The variable manifestations of disease in pyruvate kinase deficiency and their management.

Authors:  Hanny Al-Samkari; Eduard J Van Beers; Kevin H M Kuo; Wilma Barcellini; Paola Bianchi; Andreas Glenthøj; María Del Mar Mañú Pereira; Richard Van Wijk; Bertil Glader; Rachael F Grace
Journal:  Haematologica       Date:  2020-09-01       Impact factor: 9.941

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