Associated Papers
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
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
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Fossbakk A et al.
Human Mutation, 2014
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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