Effect of BH4 supplementation on phenylalanine tolerance

@article{Burlina2008EffectOB,
  title={Effect of BH4 supplementation on phenylalanine tolerance},
  author={Alberto Benedetto Burlina and Nenad Blau},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={32},
  pages={40-45}
}
SummaryBackground:Tetrahydrobiopterin (BH4) is a potential new orphan drug for the treatment of some patients with phenylketonuria (PKU), mostly mild forms. Numerous studies have confirmed this finding and BH4-responsiveness may be predicted to some extent from the corresponding genotype.Aim:To investigate the response to BH4 loading test, the phenylalanine hydroxylase (PAH) mutations and the long-term therapeutic efficacy of BH4 in patients with PKU, and to better define BH4-responsive… CONTINUE READING
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