화학공학소재연구정보센터
검색결과 : 3건
No. Article
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