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
Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature.
Kelkar J et al.
Global Medical Genetics, 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M et al.
Scientific Reports, 2017
DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.
Smith M
Frontiers in Molecular Biosciences, 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
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.
Mazzuca M et al.
Jimd Reports, 2015
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Friedman J et al.
Annals of Neurology, 2012
Human genome sequencing in health and disease.
Gonzaga-Jauregui C et al.
Annual Review of Medicine, 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
Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM et al.
Molecular Genetics and Metabolism, 2008
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.
Echenne B et al.
Pediatric Neurology, 2006
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