Literature DB >> 16278034

Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis.

Hitoshi Takagi1, Satoshi Hagiwara, Hiroaki Hashizume, Daisuke Kanda, Ken Sato, Naondo Sohara, Satoru Kakizaki, Hitomi Takahashi, Masatomo Mori, Hiroaki Kaneko, Susumu Ohwada, Miharu Ushikai, Keiko Kobayashi, Takeyori Saheki.   

Abstract

Adult onset type II citrullinemia (CTLN2) is an autosomal recessive disease accompanied with hyperammonemia and a sudden onset of psychiatric disorders. We demonstrated three male patients with CTLN2 having a liver histology of non-alcoholic steatohepatitis (NASH). Patients with NASH were analyzed for the causative gene of CTLN2, SLC25A13 and discussed.

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Year:  2005        PMID: 16278034     DOI: 10.1016/j.jhep.2005.08.024

Source DB:  PubMed          Journal:  J Hepatol        ISSN: 0168-8278            Impact factor:   25.083


  4 in total

Review 1.  Clinical features of nonalcoholic steatohepatitis in Japan: Evidence from the literature.

Authors:  Masafumi Ono; Toshiji Saibara
Journal:  J Gastroenterol       Date:  2006-08       Impact factor: 7.527

Review 2.  Genetic determinants of hepatic steatosis in man.

Authors:  Amanda J Hooper; Leon A Adams; John R Burnett
Journal:  J Lipid Res       Date:  2011-01-18       Impact factor: 5.922

3.  Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Authors:  Ayako Tabata; Jian-Sheng Sheng; Miharu Ushikai; Yuan-Zong Song; Hong-Zhi Gao; Yao-Bang Lu; Fumihiko Okumura; Mikio Iijima; Kozo Mutoh; Shosei Kishida; Takeyori Saheki; Keiko Kobayashi
Journal:  J Hum Genet       Date:  2008-04-05       Impact factor: 3.172

Review 4.  Management of late onset urea cycle disorders-a remaining challenge for the intensivist?

Authors:  S Redant; A Empain; A Mugisha; P Kamgang; R Attou; P M Honoré; D De Bels
Journal:  Ann Intensive Care       Date:  2021-01-06       Impact factor: 6.925

  4 in total

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