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
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
Engin Erdal A et al.
Molecular Syndromology, 2024
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._
Sepiapterin reductase deficiency: Report of 5 new cases.
AlSubhi S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
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