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Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria

✍ Scribed by P. Schlesinger; B.M. Watson; R.G.H. Cotton; D.M. Danks

Book ID
115822564
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
566 KB
Volume
92
Category
Article
ISSN
0009-8981

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Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups. These mutations all exhibit a high degree of association with specific restriction fragment-length polymorphism haplotypes at