Literature DB >> 17172074

Dorfman-Chanarin syndrome: a case with hyperlipidemia.

Oznur Düzovali1, Güliz Ikizoğlu, Ali Haydar Turhan, Esat Yilgör.   

Abstract

Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues. Here, we present a patient from Turkey, who is the fourth Turkish case in the literature with this syndrome, and we review the previous reported cases. He was also the second case reported with hyperlipidemia.

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Year:  2006        PMID: 17172074

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN: 0041-4301            Impact factor:   0.552


  3 in total

1.  ABHD5/CGI-58 facilitates the assembly and secretion of apolipoprotein B lipoproteins by McA RH7777 rat hepatoma cells.

Authors:  Jorge M Caviglia; Janet D Sparks; Nikhil Toraskar; Anita M Brinker; Terry C Yin; Joseph L Dixon; Dawn L Brasaemle
Journal:  Biochim Biophys Acta       Date:  2009-01-13

2.  Dorfman-chanarin syndrome: a case report.

Authors:  Seema T Methre; Ravibhushan R Godbole; Priyanka S Nayar; Rumma V Manchanda
Journal:  Indian J Hematol Blood Transfus       Date:  2011-07-06       Impact factor: 0.900

3.  Chanarin-Dorfman syndrome.

Authors:  Semih Kalyon; Yasemin Gökden; Naciye Demirel; Burak Erden; Ayberk Türkyılmaz
Journal:  Turk J Gastroenterol       Date:  2019-01       Impact factor: 1.852

  3 in total

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