Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

Author:

Bianchi Paola1ORCID,Fermo Elisa1,Glader Bertil2,Kanno Hitoshi3,Agarwal Archana4ORCID,Barcellini Wilma1ORCID,Eber Stefan5,Hoyer James D.6,Kuter David J.7ORCID,Maia Tabita Magalhães8,Mañu-Pereira Maria del Mar9,Kalfa Theodosia A.10,Pissard Serge11,Segovia José-Carlos1213,van Beers Eduard14ORCID,Gallagher Patrick G.15,Rees David C.16,van Wijk Richard17,

Affiliation:

1. UOC Ematologia, Fisiopatologia delle Anemie; Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Milan Italy

2. Lucile Packard Children's Hospital; Stanford University School of Medicine; Palo Alto California

3. Department of Transfusion Medicine and Cell Processing; Faculty of Medicine, Tokyo Women's Medical University; Tokyo Japan

4. University of Utah/ARUP Laboratories; Salt Lake City Utah

5. Special Praxis for Pediatric Hematology and Childrens’ Hospital; Technical University; Munich Germany

6. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

7. Hematology Division; Massachusetts General Hospital; Boston Massachusetts

8. Hematology Department; University Hospital Center of Coimbra; Coimbra Portugal

9. Vall d'Hebron Institut de Recerca (VHIR); Vall d'Hebron, Barcelona Hospital Campus; Barcelona Spain

10. Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center and Department of Pediatrics; University of Cincinnati, College of Medicine; Cincinnati Ohio

11. APHP-University Hospital Henri Mondor and Inserm IMRB U955eq2; Creteil France

12. Differentiation and Cytometry Unit. Hematopoietic Innovative Therapies Division, Centro de Investigaciones Energéticas; Medioambientales y Tecnológicas (CIEMAT) - Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER); Madrid Spain

13. Advance Therapies Mixed Unit; Instituto de Investigación Sanitaria-Fundación Jimenez Díaz (IIS-FJD); Madrid Spain

14. Van Creveldkliniek, University Medical Center Utrecht; University of Utrecht; Utrecht The Netherlands

15. Departments of Pediatrics, Pathology and Genetics; Yale University School of Medicine; New Haven Connecticut

16. Department of Paediatric Haematology; King's College Hospital; London United Kingdom

17. Department of Clinical Chemistry and Haematology, Division Laboratories, Pharmacy and Biomedical Genetics; University Medical Center Utrecht, Utrecht University; Utrecht The Netherlands

Publisher

Wiley

Subject

Hematology

Reference108 articles.

1. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia;Valentine;Trans Assoc Am Physicians,1961

2. Red blood cell PK deficiency: an update of PK-LR gene mutation database;Canu;Blood Cells Mol Dis.,2016

3. van Wijk https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=PKLR

4. Red cell pyruvate kinase deficiency: molecular and clinical aspects;Zanella;Br J Haematol,2005

5. Red cell enzyme defects as nondiseases and as diseases;Beutler;Blood,1979

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