Percorrer por assunto Gaucher Disease

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DataTítuloAutor(es)TipoAcesso
17-Jan-2017Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065Coutinho, Maria Francisca; Santos, Juliana Inês; Alves, SandraarticleopenAccess
Jun-2000Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutationsDiaz, G.A.; Gelb, B.D.; Risch, N.; Nygaard, T.G.; Frisch, A.; Cohen, I.J.; Miranda, C.S.; Amaral, O.; Maire, I.; Poenaru, L.; Caillaud, C.; Weizberg, M.; Mistry, P.; Desnick, R.J.articleopenAccess
Out-2017Lysosomal Storage Diseases. For Better or Worse: Adapting to Defective Lysosomal Glycosphingolipid BreakdownAerts, Johannes M.; Ferraz, Maria J.; Mirzaian, Mina; Gaspar, Paulo; Oussoren, Saskia V.; Wisse, Patrick; Kuo, Chi-Lin; Lelieveld, Lindsey T.; Kytidou, Kassiani; Hazeu, Marc D.; Boer, Daphne E.C.; Meijer, Rianne; van der Lienden, Martijn J.C.; Chao, Daniela H.M.; Gabriel, Tanit L.; Aten, Jan; Overkleeft, Herman S.; van Eijk, Marco; Boot, Rolf G.; Marques, André R.A.articleembargoedAccess
2007Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygousCherif, W.; Ben Turkia, H.; Tebib, N.; Amaral, O.; Ben Rhouma, F.; Abdelmoula MS, M.S.; Azzouz, H.; Caillaud, C.; Sà Miranda, M.C.; Abdelhak, S.; Ben Dridi, M.F.articlerestrictedAccess
Set-2013SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong placeCoutinho, Maria Francisca; Lacerda, Lúcia; Gaspar, Ana; Pinto, Eugénia; Ribeiro, Isaura; Laranjeira, Francisco; Ribeiro, Helena; Silva, Elizabete; Ferreira, Célia; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
Mar-2017Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical13C-encoded internal standardsMirzaian, M.; Wisse, P.; Ferraz, M.J.; Marques, A.R.A.; Gaspar, P.; Oussoren, S.V.; Kytidou, K.; Codée, J.D.C.; van der Marel, G.; Overkleeft, H.S.; Aerts, J.M.articleembargoedAccess