R233H mutation in patients with tyrosine hydroxylase deficiency and corresponding phenotypes: a study of four cases and literature review
Owing to the small number of patients with tyrosine hydroxylase (TH) deficiency, no genotype-phenotype correlations have yet been identified. To investigate the genotype-phenotype correlation of R233H mutation in TH deficiency, we analyzed the clinical manifestations and treatment responses of fo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
IMR Press
2022-01-01
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| Series: | Journal of Integrative Neuroscience |
| Subjects: | |
| Online Access: | https://article.imrpress.com/journal/JIN/21/1/10.31083/j.jin2101035/1757-448X-21-1-035.pdf |