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Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.

Abstract：

:We examined the value of the fasting plasma phenylalanine/tyrosine ratio obtained in an ordinary clinical setting for assessing the probability of being a heterozygote for hyperphenylalaninaemia. This biochemical test was found to be of little value in those with a high (66%) prior risk of heterozygosity, because it could not reduce the risk below 12%. However, in a population with a prior risk of only 2%, it discriminates the 3% with a 19% risk from the 97% with a risk of 1.5% or less. This simple method could usefully be applied to such a population, in order to select those at higher risk for further investigation using molecular genetics.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Saraiva JM,Seakins JW,Smith I

doi

10.1007/BF00711323

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

105-9

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

16

pub_type

杂志文章

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