Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Am J Hum Genet. 2001 Aug;69(2):269-77. doi: 10.1086/321970. Epub 2001 Jul 6.
Am J Hum Genet. 2001.
PMID: 11443547
Free PMC article.