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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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Sultan Qaboos University
2014-08-01
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| Serie: | Sultan Qaboos University Medical Journal |
| Soggetti: | |
| Accesso online: | http://web.squ.edu.om/squmj/includes/tng/pub/tNG_download.asp?id=8f588841aabd3c6b91806963c55bc56e |
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