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...
Uloženo v:
| Hlavní autoři: | , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Sultan Qaboos University
2014-08-01
|
| Edice: | Sultan Qaboos University Medical Journal |
| Témata: | |
| On-line přístup: | http://web.squ.edu.om/squmj/includes/tng/pub/tNG_download.asp?id=8f588841aabd3c6b91806963c55bc56e |
| Tagy: |
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|