DOI:
10.1055/s-00029022
Journal of Pediatric Biochemistry
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References
Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N.
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Am J Hum Genet 2001;
69 (2) 269-277
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