Literature DB >> 15127008

Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.

Ramesh Srinivasan1, Nedim Hadzić, Judith Fischer, A S Knisely.   

Abstract

Mutation in ABHD5 causes Dorfman-Chanarin syndrome (DCS), a multisystem triglyceride storage disorder. Ultrastructural study of leukocytes confirmed DCS in a child homozygous for a novel ABHD5 mutation, with ichthyosis, developmental delay, and steatohepatitis with cirrhosis, manifest only as elevated aminotranferase levels. We recommend early assessment for liver disease in DCS.

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Year:  2004        PMID： 15127008     DOI： 10.1016/j.jpeds.2004.01.036

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

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2.  Dorfman-Chanarin syndrome.

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Review 3.  CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.

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Review 4.  Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.

Authors:  Amanda L Brown; J Mark Brown
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2017-08-04       Impact factor: 4.698

5.  Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

Authors:  Rita Quelhas da Costa; Francisco Laranjeira; Isaura Duarte Ribeiro; António Filipe Santos; Filipe Nery
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Review 6.  The G0/G1 switch gene 2 (G0S2): regulating metabolism and beyond.

Authors:  Bradlee L Heckmann; Xiaodong Zhang; Xitao Xie; Jun Liu
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7.  Deficiency of liver Comparative Gene Identification-58 causes steatohepatitis and fibrosis in mice.

Authors:  Feng Guo; Yinyan Ma; Anil K G Kadegowda; Jenna L Betters; Ping Xie; George Liu; Xiuli Liu; Hongming Miao; Juanjuan Ou; Xiong Su; Zhenlin Zheng; Bingzhong Xue; Hang Shi; Liqing Yu
Journal:  J Lipid Res       Date:  2013-06-03       Impact factor: 5.922

8.  Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease.

Authors:  Franz Pw Radner; Susanne Grond; Guenter Haemmerle; Achim Lass; Rudolf Zechner
Journal:  Dermatoendocrinol       Date:  2011-04-01

9.  A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report.

Authors:  Ozdal Ersoy; Canan Alkım; Mehmet Derya Onuk; Hüseyin Demirsoy; Dilek Argon
Journal:  Int J Hepatol       Date:  2011-01-20

Review 10.  Omic studies reveal the pathogenic lipid droplet proteins in non-alcoholic fatty liver disease.

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  10 in total

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