Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania
Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacid metabolism. The variations in phenylalanine-hydroxylase (PAH) gene lead to a lowered enzymatic activity causing hyperphenylalaninemia. PKU has a mean European p...
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| Main Authors: | , , |
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| Format: | Book |
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Amaltea Medical Publishing House,
2022-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |