Publications by authors named "Peter Willem van der Linden"
Br J Haematol
January 2023
Article Synopsis
- - Erythrocytosis is a condition characterized by an increase in red blood cells and can arise from genetic (congenital) or external (acquired) factors, with congenital causes being rare.
- - The study discusses five adults from three families who have erythrocytosis linked to heterozygous variants in the BPGM gene, including a new variant discovered.
- - Functional tests indicated that these individuals exhibited partial BPGM deficiency, leading to lower levels of 2,3-bisphosphoglycerate and higher affinity of hemoglobin for oxygen, emphasizing the clinical significance of BPGM variations.
