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
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.
Froukh T
Pakistan Journal of Medical Sciences, 0
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