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 Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
Engin Erdal A et al.
Molecular Syndromology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
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
Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases.
Nisar H et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Bozaci AE et al.
Jimd Reports, 2021
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M et al.
Scientific Reports, 2017
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
Friedman JR
Pediatric Neurology, 2016
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Carducci C et al.
Molecular Genetics and Metabolism, 2015
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Friedman J et al.
Annals of Neurology, 2012
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Lohmann E et al.
Parkinsonism & Related Disorders, 2012
Human genome sequencing in health and disease.
Gonzaga-Jauregui C et al.
Annual Review of Medicine, 2012
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
Thibert R et al.
Jimd Reports, 2012
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Arrabal L et al.
Neurogenetics, 2011
Whole-genome sequencing for optimized patient management.
Bainbridge MN et al.
Science Translational Medicine, 2011
Sleep and rhythm consequences of a genetically induced loss of serotonin.
Leu-Semenescu S et al.
Sleep, 2010
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
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Bonafé L et al.
American Journal of Human Genetics, 2001