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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Amaral, O.
Showing results 3 to 11 of 11
| Issue Date | Title | Author(s) | | Feb-2000 | Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients | Amaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E. |
| Sep-2009 | Gaucher disease in Tunisia: High frequency of the most common mutations | Cherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Kefi, R.; Messai, H.; Amaral, O.; Miranda, M.C.; Caillaud, C.; Tebib, N.; Ben Dridi, M.F.; Abdelhak, S. |
| Jun-2000 | Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations | Diaz, 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. |
| Feb-2012 | Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy | Amaral, O.; Duarte, A.; Pinto, E.; Freitas, J.; Chaves, J. |
| 27-Apr-2012 | Molecular diagnosis of Gaucher disease in Tunisia | Cherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Amaral, O.; Sá Miranda, M.C.; Caillaud, C.; Kaabachi, N.; Tebib, N.; Ben Dridi, M.F. |
| Nov-2005 | Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries | Lugowska, A.; Amaral, O.; Berger, J.; Berna, L.; Bosshard, N.; Chabas, A.; Fensom, A.; Gieselmann, V.; Gorovenko, N.; Lissens, W.; Mansson, J.; Marcao, A.; Michelakakis, H.; Bernheimer, H.; Ol'khovych, N.; Regis, S.; Sinke, R.; Tylki-Szymanska, A.; Czartoryska, B. |
| 2007 | Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous | Cherif, 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. |
| Mar-2011 | Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene | Ribeiro, D.; Duarte, A.J.; Amaral, O. |
| Mar-2014 | Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene | Matos, L.; Duarte, A.J.; Ribeiro, D.; Jordan, P.; Prata, M.J.; Chaves, J.; Desviat, L.R.; Pérez, B.; Amaral, O.; Alves, S. |
Showing results 3 to 11 of 11
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