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Items: 1 to 20 of 223

1.

Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome.

Ujihara M, Nakajima K, Yamamoto M, Teraishi M, Uchida Y, Akiyama M, Shimizu H, Sano S.

J Dermatol Sci. 2010 Feb;57(2):102-7. doi: 10.1016/j.jdermsci.2009.10.016. Epub 2009 Dec 21.

PMID:
20022472
2.

Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.

Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, González-Enseñat MA, Fischer J, Azon A.

Br J Dermatol. 2005 Oct;153(4):838-41.

PMID:
16181472
3.

Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.

Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H.

J Invest Dermatol. 2003 Nov;121(5):1029-34.

4.

Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.

Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF.

Arch Dermatol. 2005 Jun;141(6):798-800. No abstract available.

PMID:
15967942
5.

Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.

Yamaguchi T, Osumi T.

Biochim Biophys Acta. 2009 Jun;1791(6):519-23. doi: 10.1016/j.bbalip.2008.10.012. Epub 2008 Nov 12. Review.

PMID:
19061969
6.

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.

Samuelov L, Fuchs-Telem D, Sarig O, Sprecher E.

Br J Dermatol. 2011 Jun;164(6):1390-2. doi: 10.1111/j.1365-2133.2011.10252.x. Epub 2011 May 13.

PMID:
21332462
7.

The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function.

Radner FP, Fischer J.

Biochim Biophys Acta. 2014 Mar;1841(3):409-15. doi: 10.1016/j.bbalip.2013.07.013. Epub 2013 Aug 6. Review.

PMID:
23928127
8.
9.

Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases.

Srebrnik A, Brenner S, Ilie B, Messer G.

Am J Dermatopathol. 1998 Feb;20(1):79-85.

PMID:
9504676
10.

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

Srinivasan R, Hadzić N, Fischer J, Knisely AS.

J Pediatr. 2004 May;144(5):662-5.

PMID:
15127008
11.

Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).

Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM.

J Invest Dermatol. 2006 Sep;126(9):2032-8. Epub 2006 Jun 1.

12.

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.

Emre S, Unver N, Evans SE, Yüzbaşioğlu A, Gürakan F, Gümrük F, Karaduman A.

Eur J Med Genet. 2010 May-Jun;53(3):141-4. doi: 10.1016/j.ejmg.2010.03.002. Epub 2010 Mar 20.

PMID:
20307695
13.

Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement.

Mela D, Artom A, Goretti R, Varagona G, Riolfo M, Ardoino S, Sanguineti G, Vitali A, Ricciardi S.

J Hepatol. 1996 Nov;25(5):769-71.

PMID:
8938558
14.

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.

Ünlüsoy-Aksu A, Sarı S, Eğritaş-Gürkan Ö, Dalgıç B.

Turk J Pediatr. 2015 May-Jun;57(3):300-3.

PMID:
26701953
15.

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.

Tamhankar PM, Iyer S, Sanghavi S, Khopkar U.

J Postgrad Med. 2014 Jul-Sep;60(3):332-4. doi: 10.4103/0022-3859.138826.

16.

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D.

Orphanet J Rare Dis. 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. Erratum in: Orphanet J Rare Dis. 2011 Feb 21;6(1):6.

17.

CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.

Caux F, Selma ZB, Laroche L, Prud'homme JF, Fischer J.

Am J Med Genet A. 2004 Aug 30;129A(2):214. No abstract available.

PMID:
15316960
18.

[Dorfman-Chanarin syndrome--a neutral lipid storage disease].

Wollenberg A, Schaller M, Röschinger W, Schirren CG, Wolff H.

Hautarzt. 1997 Oct;48(10):753-8. Review. German.

PMID:
9441170
19.

Beneficial effect of acitretin in Chanarin-Dorfman syndrome.

Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E.

Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10.

PMID:
21981352
20.

Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.

Wollenberg A, Geiger E, Schaller M, Wolff H.

Acta Derm Venereol. 2000 Jan-Feb;80(1):39-43. Review.

PMID:
10721832

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