The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

@article{Bosch2006TheCO,
  title={The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria},
  author={Annet Maria Bosch and Willemijn Tybout and Francjan J. van Spronsen and Helga de Valk and Frits A. Wijburg and Martha Alexandra Grootenhuis},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={30},
  pages={29-34}
}
Phenylketonuria (PKU; OMIM 261600) is an autosomal recessive disorder of phenylalanine metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). Cognitive problems, neuropsychological abnormalities and psychosocial problems have been reported frequently in children and adolescents with PKU, even in those who are treated early and continuously. However, the developmental consequences in adulthood of growing up with PKU are not well known. The aim of this… CONTINUE READING

Citations

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Transition of young adults with phenylketonuria from pediatric to adult care

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