Prevence poškození zdraví u hyperfenylalanémie - jedné z nejčastějších metabolických poruch
Phenylketonuria (PKU) is a metabolic disorder affecting the metabolism of essential aromatic amino acid phenylalanine. The mode of inheritance for PKU is autosomal recessive. Nearly all cases are caused by mutations in the gene encoding PAH and its deficiency, which has been mapped to chromosome 12....
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| Format: | Dissertation |
| Language: | Czech |
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2010
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| Online Access: | http://www.nusl.cz/ntk/nusl-284873 |