Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference35 articles.
1. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
2. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
3. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
4. Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy
5. Four novel mutations in the Tyrosine Hydroxylase gene in patients with infantile parkinsonism
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1. Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model;Journal of Inherited Metabolic Disease;2024-01-09
2. Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1;Journal of Inherited Metabolic Disease;2023-12-12
3. Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report;BMC Medical Genomics;2023-04-11
4. Tremor in Childhood;Contemporary Clinical Neuroscience;2023
5. R233H mutation in patients with tyrosine hydroxylase deficiency and corresponding phenotypes: a study of four cases and literature review;Journal of Integrative Neuroscience;2022-01-28
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