Abstract
Phenylalanine tolerance in vivo has been compared with the phenylalanine hydroxylase activity of liver biopsy specimens in 14 newly detected cases of hyperphenylalaninaemia. Hepatic phenylalanine hydroxylase activity does not predict the degree of dietary restriction that will be required.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Metabolism, Inborn Errors / enzymology*
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Humans
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Infant, Newborn
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Infant, Newborn, Diseases / enzymology*
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Liver / enzymology*
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Phenylalanine / blood*
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Phenylalanine Hydroxylase / deficiency*
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Phenylketonurias / enzymology
Substances
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Phenylalanine
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Phenylalanine Hydroxylase