Zobrazeno 1 - 10
of 2 002
pro vyhledávání: '"Familial intrahepatic cholestasis"'
Autor:
João Miguel Pimentel, Susana Nobre, Rui Caetano Oliveira, Ricardo Martins, Maria Augusta Cipriano
Publikováno v:
Clinical Transplantation and Research, Vol 38, Iss 3, Pp 241-245 (2024)
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an autosomal recessive disorder typically presenting in infancy with cholestasis and rapidly progressing to cirrhosis. PFIC has been associated with an elevated risk of hepatocellular ca
Externí odkaz:
https://doaj.org/article/0604295cf598443988f36830637e1098
Autor:
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver fail
Externí odkaz:
https://doaj.org/article/2e15d55f344e426f8a2be85c6f75fc31
Autor:
Kota Tsuruya, Keiko Yokoyama, Yusuke Mishima, Kinuyo Ida, Takuma Araki, Satsuki Ieda, Masato Ohtsuka, Yutaka Inagaki, Akira Honda, Tatehiro Kagawa, Akihide Kamiya
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 9, Pp 100616- (2024)
Progressive familial intrahepatic cholestasis (PFIC) is a liver disease that occurs during childhood and requires liver transplantation. ABCB4 is localized along the canalicular membranes of hepatocytes, transports phosphatidylcholine into bile, and
Externí odkaz:
https://doaj.org/article/2a4541ec5dc744d3a56da22800f1c39c
Akademický článek
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Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 17, Iss 09, Pp 01-05 (2023)
Neonatal cholestasis is a significant cause of chronic liver disease in infants. However, lack of awareness among parents and primary care physicians often leads to delayed diagnosis and management of these children. In this series, the authors disc
Externí odkaz:
https://doaj.org/article/e4e7b32168914166b2ac14c3f7cef78e
Autor:
K. S. Nezhdanov, E. N. Shirokova, Yu. O. Shulpekova, A. S. Ostrovskaya, M. S. Zharkova, V. T. Ivashkin
Publikováno v:
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, Vol 33, Iss 3, Pp 66-75 (2023)
Аim: to highlight the importance of broad differential diagnosis and possibility of conversion of benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype.Key points. A 19-year-old female patient was admitted to the C
Externí odkaz:
https://doaj.org/article/3b376864dd3b4bd7afad404c0ceefb92
Autor:
Fei Qiao, Feng Ren, Weiting Lu, Haoran Yang, Guiling Mo, Shuangshuang Wang, Lina Liu, Xiangtao Xu
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding cassette subfamily B
Externí odkaz:
https://doaj.org/article/1e78484298ae460eb8e0315dcb3292a7
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 17, Iss 11, Pp 01-03 (2023)
Cholestatic liver disease in late childhood has a comprehensive list of aetiologies, requiring a multidimensional approach. Among these, the genetic aetiology can range from having a self-limiting course to being associated with morbidity and mortali
Externí odkaz:
https://doaj.org/article/cc4bcd4812244792b1e98ed092cc0cf7
Autor:
Hadeer Mohamed Nasr El-din, Noha Adel, Nehal EL-koofy, Alaa Obeida, Sherif Kaddah, Gamal EL-Tagy, Wesam Mohamed
Publikováno v:
Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-5 (2023)
Abstract Background The liver biopsy is an essential element of evaluating progression of liver disease in children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Allagille Syndrome (AGS). Several noninvasive techniques, including radi
Externí odkaz:
https://doaj.org/article/c887159b68f54d07bbc60594a0679fd9
Akademický článek
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