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Disease name
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가족성 혈구탐식성 림프조직구증
Familial hemophagocytic lymphohistiocytosis
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Registry name
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Korean hemophagocytic lymphohistiocytosis registry |
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Initial update
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2006-05-01 |
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Last update
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2009-01-01 |
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The number of registered patients
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192 |
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The number of registered genes
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88 |
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Director
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서종진 MD, PhD /울산대학교 서울아산병원 소아종양혈액과 |
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Address
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138-736 서울특별시 송파구 아산병원길 86 서울아산병원 소아청소년병원 소아종양혈액과 |
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Email
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jjseo@amc.seoul.kr |
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Contact
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02-3010-3386 |
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Patient's registry URL
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http://bioemr.snubi.org:8080/bioemr/rdrc
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References
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Establishment of a reference interval for natural killer cell activity through flow cytometry and its clinical application in the diagnosis of hemophagocytic lymphohistiocytosis.Chung HJ, Park CJ, Lim JH, Jang S, Chi HS, Im HJ, Seo JJ. Int J Lab Hematol.
PMID:
19614711
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UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Yoon HS, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Kim JY, Lim YT, Bae KW, Lee KO, Shin JS, Le
PMID:
20015888
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The outcome of hematopoietic stem cell transplantation in Korean children with hemophagocytic lymphohistiocytosis. Yoon HS, Im HJ, Moon HN, Lee JH, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Cho B, Kim HK, Lyu CJ, Lee MJ, Kook H, Hwang TJ,
PMID:
20113424
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