A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive and often treatable neurometabolic disorder with variable phenotypes. More than 20 pathological mutations have been identified in patients with TH deficiency. We report the case of a 10-month-old male patient who presented with devel...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Sultan Qaboos University
2014-08-01
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| Серии: | Sultan Qaboos University Medical Journal |
| Предметы: | |
| Online-ссылка: | https://journals.squ.edu.om/index.php/squmj/article/view/1941 |
| Метки: |
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