Associated Papers
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
37214873 (PubMed )
Supplement: media-1.pdf
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA et al.
Human Genomics, 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
Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.
Li L et al.
Frontiers in Genetics, 2022
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.
Pan HX et al.
Translational Neurodegeneration, 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
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
Polymeris AA et al.
Journal of Neurology, 2016
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Liu TT et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2001
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