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Dědičná metabolická onemocnění u psů
ŠOLÁ, Jitka
The thesis deals with the most important inherited metabolic diseases in dogs. The thesis summarizes basic findings about eight inherited metabolic diseases, including pyruvate dehydrogenase phosphatase 1 deficiency (PDP1), phosphofructokinase deficiency (PFKD), pyruvate kinase deficiency (PK Def.), cystinuria, fucosidosis, L-2-HGA aciduria, GM1-gangliosidosis and copper toxicosis (CT). Essential characteristic, clinical view, genetic background and possibilities of current diagnostics and treatment are stated for each disease. Most of these disorders have the same genetic background and clinical symptoms like in the humans, which is why dogs serve as animal models for the development of the therapeutic methods for the human population.
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