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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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sultan Qaboos University
2014-08-01
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| coleção: | Sultan Qaboos University Medical Journal |
| Assuntos: | |
| Acesso em linha: | https://journals.squ.edu.om/index.php/squmj/article/view/1941 |
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