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Results: 1 to 20 of 35

1.

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.

Missaglia S, Valadares ER, Moro L, Faguntes ED, Quintão Roque R, Giardina B, Tavian D.

BMC Med Genet. 2014 Mar 14;15:32. doi: 10.1186/1471-2350-15-32.

PMID:
24628803
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

CGI-58 knockdown sequesters diacylglycerols in lipid droplets/ER-preventing diacylglycerol-mediated hepatic insulin resistance.

Cantley JL, Yoshimura T, Camporez JP, Zhang D, Jornayvaz FR, Kumashiro N, Guebre-Egziabher F, Jurczak MJ, Kahn M, Guigni BA, Serr J, Hankin J, Murphy RC, Cline GW, Bhanot S, Manchem VP, Brown JM, Samuel VT, Shulman GI.

Proc Natl Acad Sci U S A. 2013 Jan 29;110(5):1869-74. doi: 10.1073/pnas.1219456110. Epub 2013 Jan 9.

PMID:
23302688
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

From blood smear to lipid disorder: a case report.

Elitzur S, Yacobovich J, Dgany O, Krasnov T, Rosenbach Y, Tamary H.

J Pediatr Hematol Oncol. 2013 Nov;35(8):e329-31. doi: 10.1097/MPH.0b013e318271c915.

PMID:
23042024
[PubMed - indexed for MEDLINE]
4.

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Lamari F, Mochel F, Sedel F, Saudubray JM.

J Inherit Metab Dis. 2013 May;36(3):411-25. doi: 10.1007/s10545-012-9509-7. Epub 2012 Jul 20. Review.

PMID:
22814679
[PubMed - indexed for MEDLINE]
5.

Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.

Cakmak E, Alagozlu H, Yonem O, Ataseven H, Citli S, Ozer H.

Clin Res Hepatol Gastroenterol. 2012 Apr;36(2):e34-7. doi: 10.1016/j.clinre.2011.12.007. Epub 2012 Jan 13.

PMID:
22245374
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Jordan's anomaly in a case of Chanarin-Dorfman syndrome.

Pike GN, Jones S, Coassin S, Kronenberg F, Will A.

Br J Haematol. 2011 Nov;155(4):412. doi: 10.1111/j.1365-2141.2011.08780.x. Epub 2011 Jun 21. No abstract available.

PMID:
21689090
[PubMed - indexed for MEDLINE]
8.

Neutral lipid storage disease with unusual presentation: report of three cases.

Singh S, Sharma S, Agarwal S, Nangia A, Chander R, Varghese B.

Pediatr Dermatol. 2012 May-Jun;29(3):341-4. doi: 10.1111/j.1525-1470.2011.01429.x. Epub 2011 May 16.

PMID:
21575048
[PubMed - indexed for MEDLINE]
9.

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5.

PMID:
21544567
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
21122093
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Disruption of the Arabidopsis CGI-58 homologue produces Chanarin-Dorfman-like lipid droplet accumulation in plants.

James CN, Horn PJ, Case CR, Gidda SK, Zhang D, Mullen RT, Dyer JM, Anderson RG, Chapman KD.

Proc Natl Acad Sci U S A. 2010 Oct 12;107(41):17833-8. doi: 10.1073/pnas.0911359107. Epub 2010 Sep 27.

PMID:
20876112
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Metabolic myopathies.

DiMauro S, Garone C, Naini A.

Curr Rheumatol Rep. 2010 Oct;12(5):386-93. doi: 10.1007/s11926-010-0119-9.

PMID:
20676808
[PubMed - indexed for MEDLINE]
14.

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.

Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E.

Acta Paediatr. 2010 Oct;99(10):1592-4. doi: 10.1111/j.1651-2227.2010.01869.x.

PMID:
20528790
[PubMed - indexed for MEDLINE]
15.

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.

Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S.

Neuromuscul Disord. 2010 Jun;20(6):397-402. doi: 10.1016/j.nmd.2010.04.004. Epub 2010 May 14.

PMID:
20471263
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Crucial role of CGI-58/alpha/beta hydrolase domain-containing protein 5 in lipid metabolism.

Yamaguchi T.

Biol Pharm Bull. 2010;33(3):342-5. Review.

PMID:
20190389
[PubMed - indexed for MEDLINE]
Free Article
18.

Identification of a novel splicing isoform of murine CGI-58.

Yang X, Lu X, Liu J.

FEBS Lett. 2010 Mar 5;584(5):903-10. doi: 10.1016/j.febslet.2009.12.058. Epub 2010 Jan 18.

PMID:
20083112
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

CGI-58/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase.

Montero-Moran G, Caviglia JM, McMahon D, Rothenberg A, Subramanian V, Xu Z, Lara-Gonzalez S, Storch J, Carman GM, Brasaemle DL.

J Lipid Res. 2010 Apr;51(4):709-19. doi: 10.1194/jlr.M001917. Epub 2009 Oct 2.

PMID:
19801371
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder.

Selimoglu MA, Esrefoglu M, Gul M, Gungor S, Yildirim C, Seyhan M.

Pediatr Dermatol. 2009 Jan-Feb;26(1):40-3. doi: 10.1111/j.1525-1470.2008.00818.x.

PMID:
19250403
[PubMed - indexed for MEDLINE]

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