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
Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.
de Alencar Guerra A et al.
Journal of the Neurological Sciences, 2025
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › GCH1_Short_Variants_Pathogeneti
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1
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
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
13C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder.
Teraishi T et al.
Journal of Psychiatric Research, 2018
A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.
Bernal-Pacheco O et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2013
A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
Furuya H et al.
Clinical Neurology and Neurosurgery, 2006
Select a paper to view details