Clinical and genetic characterization of Chanarin–Dorfman syndrome-Reference-Cited by-同舟云学术

Clinical and genetic characterization of Chanarin–Dorfman syndrome

Published:2008-05 Issue:4 Volume:369 Page:1125-1128
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Bruno Claudio,Bertini Enrico,Di Rocco Maja,Cassandrini Denise,Ruffa Giuseppe,De Toni Teresa,Seri Marco,Spada Marco,Li Volti Giovanni,D’Amico Adele,Trucco Federica,Arca Marcello,Casali Carlo,Angelini Corrado,DiMauro Salvatore,Minetti Carlo

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference17 articles.

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2. Dorfman–Chanarin syndrome (neutral lipid storage disease): new clinical features;Pena-Penabad;Br. J. Dermatol.,2001

3. Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts;Igal;J. Biol. Chem.,1996

4. Disorders of lipid metabolism;Di Donato,2004

5. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin–Dorfman syndrome;Lefevre;Am. J. Hum. Genet.,2001

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