PMID 11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
PMID 16049044 2005 Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.
PMID 22522443 2012 Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.