Myrthe J van Dijk Brigitte A van Oirschot Manon C Stam-Slob Esmé Waanders Bert van der Zwaag Eduard J van Beers Judith J M Jans Peter Willem van der Linden Jose M Torregrosa Diaz Betty Gardie François Girodon Rik Schots Noortje Thielen Richard van Wijk
10.1111/bjh.18485
Br J Haematol
2023 Jan;200(2):249-255.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36177683/
Anemia, Hemolytic Metabolism, Inborn Errors Polycythemia / congenital
Anemia, Hemolytic Metabolism, Inborn Errors Polycythemia / congenital Review Adult Bisphosphoglycerate Mutase / genetics Hemoglobins Heterozygote Humans Oxygen Bisphosphoglycerate Mutase Hemoglobins Oxygen Polycythemia, primary familial and congenital
PMC10092417
36177683
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
2023