2 documents found, page 1 of 1
Lysosomal storage disease-associated neuropathy: Targeting stable nucleic acid ...
Coutinho, MF; Santos, JI; Mendonça, LS; Matos, L; João Prata, M; Jurado, AS; Lima, MCP; Alves, SMore than two thirds of Lysosomal Storage Diseases (LSDs) present central nervous system involvement. Nevertheless, only one of the currently approved therapies has an impact on neuropathology. Therefore, alternative approaches are under development, either addressing the underlying enzymatic defect or its downstream consequences. Also under study is the possibility to block substrate accumulation upstream, by ...
Molecular characterization of a novel splicing mutation underlying mucopolysacc...
Coutinho, MF; Encarnação, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; João Prata, M; Vilarinho, L; Alves, SHere, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the “diagnostic odyssey”, which frequently afflicts affected families, the proband’s sample was simultaneously screened for mutation...