Associated Papers
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
Wang Q et al.
Orphanet Journal of Rare Diseases, 2025
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Zhou J et al.
Molecular Biology Reports, 2022
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
Wang X et al.
Orphanet Journal of Rare Diseases, 2021
Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.
Mao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
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
Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
Segawa M et al.
Advances in Neurology, 2004
Molecular genetics of dopa-responsive dystonia.
Ichinose H et al.
Biological Chemistry, 1999
[The relation between metabolism of biopterin and dystonia-parkinsonism].
Ichinose H et al.
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999
Molecular genetics of DOPA-responsive dystonia.
Ichinose H et al.
Advances in Neurology, 1999
[Hereditary progressive dystonia with marked diurnal fluctuation; dominant Dopa-responsive dystonia linked to GTP cyclohydrolase I gene (HPD/DRD); Segawa's disease].
Segawa M
Ryoikibetsu Shokogun Shirizu, 1999
Dopa-responsive dystonia: a clinical and molecular genetic study.
Bandmann O et al.
Annals of Neurology, 1998