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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 321 - 324 (4page)
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We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert’s syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.
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참고문헌 (15)
참고문헌 신청
Bader-Meunier B / 2001 / Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis / Blood 15 : 399 ~ 403
Ben Harosh-Karz M / 2004 / Inceased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with Gilbert syndrome / J Clin Gastroenterol 38 : 5
Lee YK / 1999 / SDS-PAGE analysis of red cell membrane proteins in hereditary hemolytic anemia / Korean J Hematol 34 : 559 ~ 567
Lee YK / 2000 / Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis / Journal of Korean medical science 15 : 284 ~ 288
Li C / 2007 / Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes / BMC Evol Biol 7 : 69 ~
Ben Harosh-Karz M / 2004 / Inceased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with Gilbert syndrome / J Clin Gastroenterol 38 : 5
Lee YK / 1999 / SDS-PAGE analysis of red cell membrane proteins in hereditary hemolytic anemia / Korean J Hematol 34 : 559 ~ 567
Lee YK / 2000 / Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis / Journal of Korean medical science 15 : 284 ~ 288
Li C / 2007 / Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes / BMC Evol Biol 7 : 69 ~
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