Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review-Reference-Cited by-同舟云学术

Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review

Published:2022-09-30 Issue:2 Volume:200 Page:249-255
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

van Dijk Myrthe J.¹²^ORCID,van Oirschot Brigitte A.¹,Stam‐Slob Manon C.²,Waanders Esmé³,van der Zwaag Bert³,van Beers Eduard J.²^ORCID,Jans Judith J. M.⁴,van der Linden Peter Willem⁵,Torregrosa Diaz Jose M.⁶,Gardie Betty⁷⁸⁹,Girodon François⁹¹⁰¹¹^ORCID,Schots Rik¹²,Thielen Noortje¹³,van Wijk Richard¹

Affiliation:

1. Central Diagnostic Laboratory ‐ Research, University Medical Center Utrecht Utrecht University Utrecht The Netherlands

2. Division of Internal Medicine and Dermatology, University Medical Center Utrecht Utrecht University Utrecht The Netherlands

3. Department of Genetics, University Medical Center Utrecht Utrecht University Utrecht The Netherlands

4. Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht Utrecht University Utrecht The Netherlands

5. Department of Internal Medicine Spaarne Gasthuis Haarlem The Netherlands

6. Service d'Hématologie et Thérapie Cellulaire, Pôle Régional de Cancérologie University Hospital of Poitiers Poitiers France

7. Nantes University, CHU Nantes, CNRS, INSERM Nantes France

8. Ecole Pratique des Hautes Etudes (EPHE) Université Paris Sciences et Lettres Paris France

9. Laboratory of Excellence GR‐Ex Paris France

10. Service d'Hématologie Biologique, Pôle Biologie Centre Hospitalier Universitaire (CHU) de Dijon Dijon France

11. INSERM U1231 Université de Bourgogne Dijon France

12. Department of Hematology Universitair Ziekenhuis Brussel – VUB Brussels Belgium

13. Division of Internal Medicine Diakonessenhuis Utrecht The Netherlands

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18485

Reference17 articles.

1. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. Erythrocytosis associated with a novel missense mutation in the BPGM gene

4. Oxygenation of hemoglobin in the presence of 2,3-diphosphoglycerate. Effect of temperature, pH, ionic strength, and hemoglobin concentration

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