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
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?
Nakagama Y et al.
Neurology. Genetics, 2019
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