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Acquired Hypopituitarism in Diamond-Blackfan Anemia

Yun JY, Choi JE, Kim HS, Ryu KH

Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that manifests as anemia in early infancy. Blood transfusion is a critical factor for survival. However, blood transfusions can...
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Current insights into inherited bone marrow failure syndromes

Chung NG, Kim M

  • KMID: 2353160
  • Korean J Pediatr.
  • 2014 Aug;57(8):337-344.
Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often...
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Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia

Chae H, Park J, Lee S, Kim M, Kim Y, Lee JW, Chung NG, Cho B, Jeong DC, Kim J, Kim JR, Park G

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer. DBA has been associated with mutations and deletions...
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Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients

Chae H, Park J, Kim M, Lim J, Kim Y, Han K, Lee J, Chung NG, Cho B, Kim HK

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplastic anemia that usually presents early in infancy and is inherited in up to 45% of cases. It is characterized by red...
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Diamond-Blackfan anemia: long-term follow-up of six cases

Son YJ, Baek HJ, Kook H

PURPOSE: Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids...
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