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| Data | Título | Autor(es) | Tipo | Acesso |
| Abr-2012 | Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient | Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Wibrand, F.; Lund, A.M.; Johansen, K.B.; Prata, Maria João; Alves, Sandra | article |  |
| 20-Out-2011 | Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient | Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Flemming, W; Lund, AM; Johansen, KB; Prata, Maria João; Alves, Sandra | article |  |
| Set-2011 | Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient [Poster] | Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Flemming, Wibrand; Lund, Allan M; Johansen, Klaus B; Prata, Maria João; Alves, Sandra | conferenceObject | |
| Set-2011 | Biochemical analysis of GNPTAB missense mutations associated with ML II | da Silva Santos, Liliana; Coutinho, Maria Francisca; Girisha, Katta Mohan; Lacerda, Lúcia; Tappino, Barbara; Stefano, Regis; Filocammo, Mirella; Prata, Maria João; Alves, Sandra | conferenceObject | |
| Dez-2008 | Caracterização genotípica de doentes portugueses com patologias associadas ao complexo multienzimático lisossomal: sialidose e galactosialidose | Coutinho, Maria Francisca | masterThesis | |
| Set-2009 | Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II | Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Bargal, Ruth; Filocammo, Mirella; RaasRothschild, A.; Tappino, Barbara; Alves, Sandra | conferenceObject | |
| 17-Jan-2017 | Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065 | Coutinho, Maria Francisca; Santos, Juliana Inês; Alves, Sandra | article | |
| Mar-2017 | Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases | Coutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; Ribeiro, Diogo; Alves, Sandra | conferenceObject | |
| Set-2017 | Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC | Matos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra | conferenceObject | |
| Nov-2017 | Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II | Matos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra | conferenceObject | |
| 12-Mai-2016 | Doenças lisossomais de sobrecarga em Portugal: 10 anos de experiência em estudos moleculares no INSA (2006-2016) | Coutinho, Maria Francisca; Duarte, Ana Joana; Matos, Liliana; Santos, Juliana Inês; Amaral, Olga; Alves, Sandra | article | |
| Nov-2010 | Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous cases | Coutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, Sandra | conferenceObject | |
| 18-Ago-2015 | From rare to common and back again: 60 years of lysosomal dysfunction | Coutinho, Maria Francisca; Alves, Sandra | article |  |
| Mar-2017 | Genetically modulated substrate reduction therapy | Coutinho, Maria Francisca; Santos, Juliana Inês; Matos, Liliana; Alves, Sandra | conferenceObject | |
| Set-2017 | Genetically modulated Substrate Reduction Therapy for Mucopolysaccharidoses – in vitro studies | Coutinho, Maria Francisca; Santos, Juliana Inês; Gaspar, Paulo; Alves, Sandra | conferenceObject | |
| Nov-2017 | Genetically Modulated Substrate Reduction Therapy for Sanfilippo syndrome – proof of principle | Santos, Juliana Inês; Coutinho, Maria Francisca; Alves, Sandra | conferenceObject | |
| 2012 | Glycosaminoglycan storage disorders: a review | Coutinho, Maria Francisca; Lacerda, Lúcia; Alves, Sandra | article | |
| 5-Out-2011 | Glycosaminoglycan Storage Disorders: a review | Coutinho, Maria Francisca; Lacerda, Lúcia; Alves, Sandra | article | |
| Fev-2017 | I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis | Singh, Ankur; Prasad, Rajniti; Gupta, Aditya Kumar; Sharma, Anil; Alves, Sandra; Coutinho, Maria Francisca; Kapoor, Seema; Mishra, Om Prakash | article | |
| 8-Mai-2017 | Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in Mucopolysaccharidoses | Coutinho, Maria Francisca; Santos, Juliana Inês; Alves, Sandra | conferenceObject | |
