검색결과 : 3건
No. | Article |
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1 |
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C Biochemical and Biophysical Research Communications, 430(1), 241, 2013 |
2 |
Clinical and genetic characterization of Chanarin-Dorfman syndrome Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Volti GL, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, DiMauro S, Minetti C Biochemical and Biophysical Research Communications, 369(4), 1125, 2008 |
3 |
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy Campagna F, Nanni L, Quagliarini F, Pennisi E, Michailidis C, Pierelli F, Bruno C, Casali C, DiMauro S, Arca M Biochemical and Biophysical Research Communications, 377(3), 843, 2008 |