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...
Shranjeno v:
| Principais autores: | , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Sultan Qaboos University
2014-08-01
|
| Serija: | Sultan Qaboos University Medical Journal |
| Teme: | |
| Online dostop: | https://journals.squ.edu.om/index.php/squmj/article/view/1941 |
| Oznake: |
Brez oznak, prvi označite!
|