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Elsevier电子期刊(9)

在“Elsevier电子期刊”中，命中：9条，耗时：0.0859592 秒

在所有数据库中总计命中：10条

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

作者：Tomohiro Yamaguchi ; Takashi Osumi

关键词：Lipid droplet ; Chanarin&#x2013 ; Dorfman syndrome ; CGI-58 ; Perilipin ; ATGL

刊名：Biochimica et Biophysica Acta (BBA)/Molecular and Cell Biology of Lipids

出版年：2009

2.Clinical and genetic characterization of Chanarin–Dorfman syndrome

作者：Claudio Bruno ; Enrico Bertini ; Maja Di Rocco ; Denise Cass ; rini ; Giuseppe Ruffa ; Teresa De Toni ; Marco Seri ; Marco Spada ; Giovanni Li Volti ; Adele D&#x2019 ; Amico ; Federica Trucco ; Marcello Arca ; Carlo

关键词：Chanarin&#x2013 ; Dorfman syndrome ; Neutral lipid storage disease ; Ichthyosis ; Jordans&#x2019 ; bodies ; Myopathy

刊名：Biochemical and Biophysical Research Communications

出版年：2008

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

作者：Mayumi Ujihara ; Kimiko Nakajima ; Mayuko Yamamoto ; Mika Teraishi ; Yoshikazu Uchida ; Masashi Akiyama ; Hiroshi Shimizu ; Shigetoshi Sano

刊名：Journal of Dermatological Science

出版年：2010

4.Rising Carcinoembryonic Antigen during Follow-up for Colonic Carcinoma — an Unusual Presentation of Medullary Carcinoma of the Thyroid

作者：J. Breeze ; F. Mckinna ; D.C. Howlett

关键词：Chanarin&#x2013 ; Dorfman syndrome ; Neutral lipid storage disease ; Ichthyosis ; Jordans&#x2019 ; bodies ; Myopathy

刊名：Clinical Oncology

出版年：2008

5.Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation

作者：Anna Ronchetti ; Daniele Prati ; Maria Grazia Pezzotta ; Daniela Tavian ; Roberto Colombo ; Francesco Callea ; Agostino Colli

关键词：Chanarin&#x2013 ; Dorfman syndrome ; Non-alcoholic steatohepatitis ; Ichthyosis

刊名：Journal of Hepatology

出版年：2008

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

作者：Hasan O. Akman ; Guido Davidzon ; Kurenai Tanji ; Emma J. MacDermott ; Louann Larsen ; Mercy M. Davidson ; Ronald G. Haller ; Lidia S. Szczepaniak ; Thomas J.A. Lehman ; Michio Hirano ; Salvatore DiMauro

关键词：Neutral lipid storage and myopathy (NLSDM) ; Triglyceride lipase ; HyperCKemia ; PNPLA2 ; Retrotransposal insertion

刊名：Neuromuscular Disorders

出版年：2010

7.Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

作者：Filomena Campagna ; Luisa Nanni ; Fabiana Quagliarini ; Elena Pennisi ; Constantine Michailidis ; Francesco Pierelli ; Claudio Bruno ; Carlo Casali ; Salvatore DiMauro ; Marcello Arca

关键词：Lipid droplets ; Neutral lipid storage disease ; Chanarin&#x2013 ; Dorfman syndrome ; PNPLA2/ATGL ; Triglyceride storage

刊名：Biochemical and Biophysical Research Communications

出版年：2008

8.M.P.4.12 Molecular analysis of the ABHD5 gene in Italian patients with multisystem triglyceride storage disease (Chanarin-Dorfman syndrome)

作者：C. Bruno ; E. Bertini ; M. DiRocco ; D. Cass ; rini ; G. Ruffa ; T. DeToni ; M. Spada ; S. Li Volti ; A. D&#x2019 ; Amico ; M. Seri ; C. Casali ; C. Angelini ; C. Minetti ; S. Di Mauro

关键词：Canine ; Myopathy ; Myostatin

刊名：Neuromuscular Disorders

出版年：2007

9.An original mutation of CGI-58 in a new case of Dorfman–Chanarin syndrome

关键词：colon cancer ; angiosarcoma ; malignancy

刊名：Journal of the American Academy of Dermatology

出版年：2007

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