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
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Fossbakk A et al.
Human Mutation, 2014
A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
Haugarvoll K et al.
Journal of Parkinson's Disease, 2011
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA et al.
Brain : a Journal of Neurology, 2010
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