Associated Papers
Novel SPR mutation in first Chinese patient with sepiapterin reductase deficiency: urinary biomarker validation in oldest treated case.
Zheng X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
Koht J et al.
Acta Neurologica Scandinavica. Supplementum, 2014
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