Associated Papers
R233H mutation in patients with tyrosine hydroxylase deficiency and corresponding phenotypes: a study of four cases and literature review.
Yao CM et al.
Journal of Integrative Neuroscience, 2022
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
Wassenberg T et al.
Molecular Genetics and Metabolism Reports, 2021
Human tyrosine hydroxylase in Parkinson's disease and in related disorders.
Nagatsu T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2019
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Yang K et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
Møller LB et al.
Prenatal Diagnosis, 2005
The genetics of primary dystonias and related disorders.
Németh AH
Brain : a Journal of Neurology, 2002
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
Furukawa Y et al.
Neurology, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
DE Lonlay P et al.
Journal of Inherited Metabolic Disease, 2000
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.
Janssen RJ et al.
Annals of Human Genetics, 2000
Molecular genetics of dopa-responsive dystonia.
Ichinose H et al.
Biological Chemistry, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Wevers RA et al.
Journal of Inherited Metabolic Disease, 1999
[The relation between metabolism of biopterin and dystonia-parkinsonism].
Ichinose H et al.
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999
Molecular genetics of DOPA-responsive dystonia.
Ichinose H et al.
Advances in Neurology, 1999