Browsing by Author Alves, S.

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Issue DateTitleAuthor(s)TypeAccess Type
Jan-2012Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Barbosa, M.; Lopes, A.; Mota, C.; Martins, E.; Oliveira, J.; Alves, S.; De Bonis, P.; Mota, M. do C.; Dias, Carlos Matias; Rodrigues-Santos, P.; Fortuna, A.M.; Quelhas, D.; Lacerda, L.; Bisceglia, L.; Cardoso, M.L.articlerestrictedAccess
May-2014Doenças Lisossomais de Sobrecarga – Novas metodologias de diagnósticoAlves, S.lecturerestrictedAccess
Apr-2014Ficha de Atividades Laboratoriais no âmbito das Doenças Lisossomais de SobrecargaAlves, S.otheropenAccess
29-Sep-2014From bedside to cell biology: a century of history on lysosomal dysfunctionCoutinho, M.F.; Matos, L.S.; Alves, S.articleembargoedAccess
Sep-2014Lysosomal Storage Diseases: pathophysiology and innovative therapeutic approachesAlves, S.conferenceObjectopenAccess
4-Aug-2014Molecular and computational analyses of genes involved in mannose 6-phosphate independent traffickingCoutinho, M.F.; Lacerda, L.; Pinto, E.; Ribeiro, H.; Macedo-Ribeiro, S.; Castro, L.; Prata, M.J.; Alves, S.articlerestrictedAccess
Nov-2014Mucolipidosis Type II and Type III: Nine cases from one Indian centreBhat, M.; Sanjeeva, G.N.; Maganti, M.; Devaiah, S.; Silji, G.; Undamatla, J.; Coutinho, M.F.; Alves, S.conferenceObjectopenAccess
1-Jun-2014Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutationAggarwal, S.; Coutinho, M.F.; Dalal, A.; Jain, S.J.; Prata, M.J.; Alves, S.articlerestrictedAccess
10-Dec-2014Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutationsMatos, L.; Canals, I.; Dridi, L.; Choi, Y.; Prata, M.J.; Jordan, P.; Desviat, L.R.; Pérez, B.; Pshezhetsky, A.V.; Grinberg, D.; Alves, S.; Vilageliu, L.articleopenAccess
Mar-2014Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B geneMatos, L.; Duarte, A.J.; Ribeiro, D.; Jordan, P.; Prata, M.J.; Chaves, J.; Desviat, L.R.; Pérez, B.; Amaral, O.; Alves, S.conferenceObjectclosedAccess