Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia
Luisa Bonafé, Beat Thöny, Johann M. Penzien, Barbara Czarnecki, Nenad BlauVolume:
69
Year:
2001
Language:
english
DOI:
10.1086/321970
File:
PDF, 649 KB
english, 2001