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1. Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story

Subjects
Phenylketonuria -- Care and treatment, Low-phenylalanine diet -- Usage, Genetic screening -- Usage, Health, Care and treatment, Usage
Abstract

Efficient neonatal screening for phenylketonuria and the availability of complex diets for lifelong use have virtually eliminated severe mental handicap from the disease. Nevertheless, there remains a high risk of [...]

Published
1993

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