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

Erythrocytosis is associated with increased red blood cell mass and can be either congenital or acquired. Congenital secondary causes are rare and include germline variants increasing haemoglobin (Hb)‐oxygen affinity (e.g., Hb or bisphosphoglycerate mutase (BPGM) variants) or affecting oxygen‐sensin...

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Detalles Bibliográficos
Autores principales: van Dijk, Myrthe J., van Oirschot, Brigitte A., Stam‐Slob, Manon C., Waanders, Esmé, van der Zwaag, Bert, van Beers, Eduard J., Jans, Judith J. M., van der Linden, Peter Willem, Torregrosa Diaz, Jose M., Gardie, Betty, Girodon, François, Schots, Rik, Thielen, Noortje, van Wijk, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Red Cells and Iron
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092417/
https://www.ncbi.nlm.nih.gov/pubmed/36177683
http://dx.doi.org/10.1111/bjh.18485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092417/
https://www.ncbi.nlm.nih.gov/pubmed/36177683
http://dx.doi.org/10.1111/bjh.18485

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