Introduction: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge.Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease.Material and Methods: Bibliographic review and...
Metabolic models are an important tool for in silico simulation of cells’ behavior. Until now, a considerable number of metabolic models were released for several microorganisms. Ashbya gossypii is an industrially relevant fungus intensively used for riboflavin production with no model reported until now. Despite the high similarity with the Saccharomyces cerevisiae genome, A. gossypii contains only 4726 protei...
Tese de mestrado. Design Industrial. Universidade do Porto. Faculdade de Engenharia. 2011
Tese de mestrado integrado. Engenharia Electrotécnica e de Computadores. Faculdade de Engenharia. Universidade do Porto. 2012
A very high gravity (VHG) repeatedbatch fermentation system using an industrial strain of Saccharomyces cerevisiae PE-2 (isolated from sugarcane-to-ethanol distillery in Brazil) and mimicking industrially relevant conditions (high inoculation rates and low O2 availability) was successfully operated during fifteen consecutive fermentation cycles, attaining ethanol at 17.1 ± 0.2% (v/v) with a batch productivity o...
Systems biology has recently arisen as a promising and powerful tool for process development and optimization. Metabolic models are one of its different methodologies with high interest and applicability since it allows the simulation of cells behavior under different environments and/or specific genetic variations. The fast-growing number of sequenced genomes may have contributed to this phenomenon, as the seq...
The flocculation gene FLO1 was transferred into the robust industrial strain Saccharomyces cerevisiae PE-2 by the lithium acetate method. The recombinant strain showed a fermentation performance similar to that of the parental strain. In 10 repeat-batch cultivations in VHG medium with 345 g glucose/L and cell recycling by flocculation–sedimentation, an average final ethanol concentration of 142 g/L and an ethan...
A violência e a violência familiar, assim como transtornos de ansiedade como a fobia/ansiedade social tem sido apontados como fenômenos que possuem algum tipo de associação seja pela semelhança nas características de manifestação, seja pelo impacto provocado nos âmbitos sociais e de saúde dos indivíduos envolvidos. No que concerne a violência e a violência familiar, vale salientar que os atos de omissão e negli...
Metabolic models are an important tool for in silico simulation of cells’ behavior. Until now, a considerable number of metabolic models have been released for a wide range of microorganisms. Ashbya gossypii is an industrial-relevant fungus intensively used for riboflavin production with no model reported until now. Despite its high similarity with Saccharomyces cerevisiae genome, A. gossypii contains only 472...
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