Disease: Segawa syndrome- autosomal recessive
- A case of treatable encephalopathy, developmental regression, and proximal tremor
- An Indian Family with Tyrosine Hydroxylase Deficiency
- Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing
- Clinical and genetic analysis of a case with infantile Parkinsonism with motor delay due to tyrosine hydroxylase deficiency
- Clinical and genetic analysis of tyrosine hydroxylase deficiency of six cases
- Common and rare GCH1 variants are associated with Parkinson's disease
- Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report
- Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes
- Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report
- Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review
- Dystonia
- Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H)
- iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
- Levalbuterol lowers the feedback inhibition by dopamine and delays misfolding and aggregation in tyrosine hydroxylase
- Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children
- R233H mutation in patients with tyrosine hydroxylase deficiency and corresponding phenotypes: a study of four cases and literature review
- Role of gut microbiota in regulating gastrointestinal dysfunction and motor symptoms in a mouse model of Parkinson's disease
- Segawa Syndrome, a Dramatic Response to Dopamine
- Study of GCH1 and TH genes in Chinese patients with Parkinson's disease
- Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency