Molecular genetics and outcome in PKU
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G�ttler, Flemming ;Guldberg, Per ;Eisensmith, Randy C. ;Woo, Savio L. C.
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Article
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1999
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John Wiley and Sons
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English
⚖ 63 KB
Phenylketonuria (PKU) is a recessive trait that usually produces a clear-cut Mendelian pattern in individual families. However, the distribution of phenotypes among families is heterogeneous in severity and response to dietary treatment, spanning from ''classic'' PKU to mild hyperphenylalaninemia (M