Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"Fabry Disease"”.
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Potential Modifications to Enzyme Replacement Therapy in Anderson-Fabry Disease
… A (αGal) result in the sphingolipidoses named Fabry disease. This enzymatic defect is inherited as an X-linked recessive disorder and is associated with a progressive deposition of glycosphingolipids, including globotriaosylceramide (GB3), galabioasylceramide, and blood group B substance in the …
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TARGETING NEUROINFLAMMATION TO RELIEVE FABRY DISEASE NEUROPATHIC PAIN:EFFICACY OF PROKINETICIN SYSTEM ANTAGONISM AND MICROGLIAL INHIBITION
La malattia di Fabry (Fabry Disease, FD) è un disordine genetico da accumulo lisosomiale causato da una deficienza parziale o totale dell’enzima α-galattosidasi A (α-Gal A), codificato dal gene GLA localizzato sul cromosoma X (Xq22). Questo deficit enzimatico porta all’accumulo di …
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3D KIDNEY ORGANOIDS AS A PLATFORM FOR INVESTIGATING MONOGENIC DISEASES AND GENE THERAPY APPROACHES
… organoids as a 3D model of rare inherited kidney diseases. Human kidney organoids are an invaluable platform for studying renal pathophysiology, developing cell-based therapies, and testing novel therapeutic approaches. We generated and characterised kidney organoid models of proximal …
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Studium exprese mutantních alel a stavu X inaktivace ve vztahu ke klinickým projevům vybraných monogenních X vázaných onemocnění
… traits in selected X linked inherited metabolic diseases is analysed, with the focus being Fabry disease - the deficiency of the enzyme alpha-galactosidase A encoded by GLA gene. Moreover, XCI in one family with X linked agammaglobulinemia is examined. Mutant alleles and XCI status based on …
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Development of improved methodologies for the discovery of novel bioactive compounds and their application to problems of biomedical relevance.
… and Drug Administration for the treatment of Fabry disease) does. Using a combined strategy of virtual screening based on the three-dimensional shape of the chemical compounds and the modeling of the molecular coupling we discovered a compound, 2,6-ditiopurine, which after laboratory tests was …
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Whole-exome sequencing of cases with familial cardiomyopathy
… for functional validation of newly identified disease genes. Therefore, the aims of this investigation were to utilise exome sequencing to identify disease-causing mutations in South African families with heritable cardiomyopathy, and to establish methods of variant validation through …
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Medicina genómica en el diagnóstico de enfermedades raras
En este trabajo de investigación se analizan tres casos clínicos de condiciones raras: una enfermedad de olor inusual con gran afectación en el relacionamiento social de la persona afectada, una familia con neurodegeneración por depósito de hierro en la que se identificó un fenotipo oculto de …