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
Identification of TH Variants in Chinese Dopa-Responsive Dystonia Patients and Long-Term Outcomes.
Li XY et al.
Frontiers in Neurology, 2021
A case of late-onset dopa-responsive isolated dystonia secondary to a novel tyrosine hydroxylase gene variant.
Chaithra SP et al.
Clinical Parkinsonism & Related Disorders, 2020
A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.
Yan YP et al.
The International Journal of Neuroscience, 2017
An unusual presentation of tyrosine hydroxylase deficiency.
Katus LE et al.
Journal of Clinical Movement Disorders, 2017
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Fossbakk A et al.
Human Mutation, 2014
Computational study of human tyrosine hydroxylase mutants to uphold [4-(Propan-2-yl) Phenyl]Carbamic acid as a potential inhibitor.
Nawaz MS et al.
Cns & Neurological Disorders Drug Targets, 2014
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA et al.
Brain : a Journal of Neurology, 2010
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
Royo M et al.
Proteins, 2005
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