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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Friedman J et al.
Annals of Neurology, 2012
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 2006
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
Steinberger D et al.
Neurogenetics, 2004
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
Abeling NG et al.
Molecular Genetics and Metabolism, 0
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