Associated Papers
Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency.
de Gusmao CM et al.
Movement Disorders Clinical Practice, 2025
Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.
Ban T et al.
Movement Disorders Clinical Practice, 2025
Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree.
Wang Y et al.
Bmc Psychiatry, 2025
Whole-exome sequencing identifies high-confidence genes for tic disorders in a Chinese Han population.
Lu Q et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes.
Zhang J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
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 › TH_Short_Var_Pathogenetic
Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Hyland K et al.
Pediatric Neurology, 2020
Tyrosine hydroxylase deficiency in Taiwanese infants.
Chi CS et al.
Pediatric Neurology, 2012
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
Yeung WL et al.
Journal of Child Neurology, 2011
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
Mak CM et al.
Molecular Genetics and Metabolism, 2010
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