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KMID : 0191120100250040626
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Journal of Korean Medical Science
2010 Volume.25 No. 4 p.626 ~ p.629
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Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
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Park Jeong-A
Park Byung-Kyu
Park Hyeon-Jin
Kong Sun-Young
Lim Yeon-Jung
Ghim Thad T.
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Abstract
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We describe a girl with Diamond-Blackfan anemia with accompanying red cell enolase deficiency. At the age of 9 yr old, the patient received allogeneic bone marrow transplantation from her HLA-identical sister who had normal red cell enolase activity. While the post transplant DNA analysis with short tandem repeat has continuously demonstrated a stable mixed chimerism on follow-up, the patient remains transfusion independent and continues to show a steady increase in red cell enolase activity for over two and a half years following bone marrow transplantation.
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KEYWORD
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Anemia, Diamond-Blackfan, Erythrocyte Enzyme Deficiency, Red Cell Enolase Deficiency, Bone Marrow Transplantation
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