Associated Papers
Brain Folate Depletion as a Cause of Metabolic Stroke in Dihydropteridine Reductase Deficiency: A Suggestive Case Report.
Ricciardi G et al.
Pediatric Neurology, 2025
Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.
Girish A et al.
Journal of Biomolecular Structure & Dynamics, 2024
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Mastrangelo M et al.
Frontiers in Neurology, 2022
[Screening results and genetic analysis of neonatal tetrahydrobiopterin deficiency in Hainan Province from 2007 to 2019].
Huang CD et al.
Zhonghua Yi Xue Za Zhi, 2021
Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.
Galosi S et al.
Movement Disorders Clinical Practice, 2020
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.
Porta F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Lu DY et al.
World Journal of Pediatrics : Wjp, 2014
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Dopamine agonists in dihydropteridine reductase deficiency.
Porta F et al.
Molecular Genetics and Metabolism, 2012
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Concolino D et al.
Journal of Inherited Metabolic Disease, 2008
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Dihydropteridine reductase deficiency in man: from biology to treatment.
Ponzone A et al.
Medicinal Research Reviews, 2004
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
de Sanctis L et al.
Journal of Inherited Metabolic Disease, 2000
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
Smooker PM et al.
Human Mutation, 1999