- Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
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Park JA, Lim YJ, Park HJ, Kong SY, Park BK, Ghim TT
- KMID: 1792936
- J Korean Med Sci.
- 2010 Apr;25(4):626-629.
- doi: 10.3346/jkms.2010.25.4.626
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... -
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- Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients
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Chae H, Park J, Kim M, Lim J, Kim Y, Han K, Lee J, Chung NG, Cho B, Kim HK
- KMID: 1781623
- Korean J Lab Med.
- 2010 Jun;30(3):249-254.
- doi: 10.3343/kjlm.2010.30.3.249
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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- Current insights into inherited bone marrow failure syndromes
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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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- Diamond-Blackfan anemia: long-term follow-up of six cases
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Son YJ, Baek HJ, Kook H
- KMID: 2280246
- Korean J Pediatr.
- 2008 Nov;51(11):1211-1216.
- doi: 10.3345/kjp.2008.51.11.1211
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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- Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia
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Chae H, Park J, Lee S, Kim M, Kim Y, Lee JW, Chung NG, Cho B, Jeong DC, Kim J, Kim JR, Park G
- KMID: 2155353
- Exp Mol Med.
- 2014 Mar;46(3):e88.
- doi: 10.1038/emm.2013.159
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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- Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea
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Kim SK, Ahn HS, Back HJ, Cho B, Choi EJ, Chung NG, Hwang PH, Jeoung DC, Kang HJ, Kim H, Ko KN, Koo HH, Kook H, Lee KC, Lim HJ, Lim YT, Lyu CJ, Park JE, Park KD, Park SK, Ryu KH, Seo JJ, Shin HY, Sung KW, Yoo ES
- KMID: 2083607
- Korean J Hematol.
- 2012 Jun;47(2):131-135.
- doi: 10.5045/kjh.2012.47.2.131
BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess... -
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- The Frequency of Glycophosphatidyl Inositol-Anchored Protein-Negative Paroxysmal Nocturnal Hemoglobinuria Cells in Pediatric Aplastic Anemia Analyzed by Flow Cytometry
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Kim SJ, Kook H, Cho D, Kim SY, Noh HY, Choi IS, Lee JS, Ryang DW, Hwang TJ
- KMID: 2278261
- Korean J Pediatr Hematol Oncol.
- 2003 Apr;10(1):39-48.
PURPOSE: Paroxysmal nocturnal hemoglobinuria (PNH) has been known to be a late clonal complication of aplastic anemia (AA). Flow cytometric analysis using CD55 and CD59 antibodies became the gold standard... -
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- Comparison of growth and neuropsychological function after treatment for hematologic and oncologic diseases in monozygotic twins
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Kim GH, Kook H, Baek HJ, Han DK, Song ES, Jo YK, Choi IS, Kim YO, Kim CJ, Woo YJ, Yang SJ, Hwang TJ
- KMID: 2278724
- Korean J Pediatr.
- 2007 Feb;50(2):182-189.
- doi: 10.3345/kjp.2007.50.2.182
PURPOSE: The primary purpose of this study was to evaluate the growth and neuropsychologic function following treatments for pediatric hematologic and oncologic diseases. Healthy monozygotic twins served as ideal controls... -
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- A Case of Diabetes Mellitus due to Hemochromatosis in Patient with CPRCA
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Kim EH, Shin YH, Ahn HS, Kim SW
- KMID: 2208351
- J Korean Pediatr Soc.
- 1995 Feb;38(2):280-284.
Iron overload from repeated blood transfusions in patients with hematologic problems is a problem of clinical significance, because eventually it can lead to secondary hemochromatosis with diabetes. So it is... -
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