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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제22권 제5호
- 발행연도
- 2019.1
- 수록면
- 479 - 486 (8page)
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Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.
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참고문헌 (25)
참고문헌 신청
Davit-Spraul A / 2009 / Progressive familial intrahepatic cholestasis / Orphanet J Rare Dis 4:1
Cavestro GM / 2002 / Progressive familial intrahepatic cholestasis / Acta Biomed 73:53~56
Amer S / 2014 / A comprehensive review of progressive familial intrahepatic cholestasis(PFIC) : genetic disorders of hepatocanalicular transporters / Gastroenterology Res 7:39~43
Srivastava A / 2014 / Progressive familial intrahepatic cholestasis / J Clin Exp Hepatol 4:25~36
Gaur K / 2017 / Progressive familial intrahepatic cholestasis : a comprehensive review of a challenging liver disease / Indian J Pathol Microbiol 60:2~7
Cavestro GM / 2002 / Progressive familial intrahepatic cholestasis / Acta Biomed 73:53~56
Amer S / 2014 / A comprehensive review of progressive familial intrahepatic cholestasis(PFIC) : genetic disorders of hepatocanalicular transporters / Gastroenterology Res 7:39~43
Srivastava A / 2014 / Progressive familial intrahepatic cholestasis / J Clin Exp Hepatol 4:25~36
Gaur K / 2017 / Progressive familial intrahepatic cholestasis : a comprehensive review of a challenging liver disease / Indian J Pathol Microbiol 60:2~7
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