Dihydropteridine reductase deficiency: Clinical, biochemical and therapeutic aspects

@article{Cerone1986DihydropteridineRD,
  title={Dihydropteridine reductase deficiency: Clinical, biochemical and therapeutic aspects},
  author={Roberto Cerone and Silvia Scalisi and Mario Cotellessa and Maria Cristina Schiaffino and Ubaldo Caruso and Caro Romano},
  journal={Journal of Inherited Metabolic Disease},
  year={1986},
  volume={9},
  pages={244-246}
}
Inborn errors of biopterin metabolism are detected in 1–3% of patients with hyperphenylalaninaemia and appear to result from a deficiency of dihydropteridine reductase (DHPR, EC 1.6.99.7) (Kaufmann et al, 1975) or dihydrobiopterin synthetase (Bartholome etal., 1977) or GPT-cyclohydrolase (EC 3.5.4.16) (Nieder- wieser et al1982). In addition to hyperphenylalaninaemia, most infants and children with congenital defects of biopterin metabolism have decreased levels of neurotransmitter metabolites… CONTINUE READING

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Changes of Cerebral Biopterin and Biogenic Amine Metabolism in Leukemic Children Receiving 5 g/m2 Intravenous Methotrexate

Frédéric Millot, Jean-Louis Dhondt, +3 authors François Guilhot
  • Pediatric Research
  • 1995

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