Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency-Reference-Cited by-同舟云学术

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

Published:2020-03-06 Issue:5 Volume:95 Page:472-482
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am J Hematol

Author:

Bianchi Paola¹^ORCID,Fermo Elisa¹,Lezon‐Geyda Kimberly²,Beers Eduard J.³,Morton Holmes D.⁴,Barcellini Wilma¹,Glader Bertil⁵,Chonat Satheesh⁶,Ravindranath Yaddanapudi⁷,Newburger Peter E.⁸,Kollmar Nina⁹,Despotovic Jenny M.¹⁰,Verhovsek Madeleine¹¹^ORCID,Sharma Mukta¹²,Kwiatkowski Janet L.¹³^ORCID,Kuo Kevin H. M.¹⁴^ORCID,Wlodarski Marcin W.¹⁵,Yaish Hassan M.¹⁶,Holzhauer Susanne¹⁷,Wang Heng¹⁸,Kunz Joachim¹⁹,Addonizio Kathryn²⁰,Al‐Sayegh Hasan²⁰,London Wendy B.²⁰,Andres Oliver²¹,Wijk Richard²²,Gallagher Patrick G.²³,Grace Rachael F. F.²¹^ORCID

Affiliation:

1. U.O.C. EmatologiaU.O.S. Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Milan Italy

2. Department of PediatricsYale University School of Medicine New Haven CT

3. Division Internal Medicine and DermatologyVan Creveldkliniek, University Medical Center Utrecht Utrecht The Netherlands

4. Central Pennsylvania Clinic for Special Children & AdultsBelleville, PA; Lancaster General Hospital Lancaster PA

5. Lucile Packard Children's HospitalStanford University Palo Alto CA

6. Department of PediatricsEmory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta Atlanta GA

7. School of MedicinePediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine Detroit MI

8. Department of PediatricsUniversity of Massachusetts Medical School Worcester MA

9. Department of Pediatric Hematology/OncologyKlinikum Kassel GmbH Kassel Germany

10. Texas Children's Hematology CenterBaylor College of Medicine Houston TX

11. Department of MedicineMcMaster University Hamilton, ON Canada

12. Department of PediatricsChildren's Mercy, School of Medicine University of Missouri Kansas City MO

13. Division of HematologyChildren's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania Philadelphia PA

14. Division of Hematology, Department of MedicineUniversity Health Network, University of Toronto Toronto Ontario Canada

15. St. Jude Children's Research Hospital Memphis TN

16. Primary Children's HospitalUniversity of Utah Salt Lake City UT

17. CharitéUniversity Medicine, Pediatric Hematology and Oncology Berlin Germany

18. DDC Clinic for Special Needs Children Middlefield OH

19. Zentrumfür Kinder‐und Jugendmedizin Heidelberg Germany

20. Dana‐Farber/Boston Children's Cancer and Blood Disorder Center Boston MA

21. Department of PediatricsUniversity of Würzburg Würzburg Germany

22. Central Diagnostic LaboratoryUniversity Medical Center Utrecht Utrecht The Netherlands

23. Department of Pediatrics, Department of Genetics, Department of PathologyYale University School of Medicine New Haven CT

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.25753

Reference36 articles.

1. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

2. Prevalence of pyruvate kinase deficiency in a northern European population in the north of England

3. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish

4. Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

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

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