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Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency
Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Audiological Society
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853892/ https://www.ncbi.nlm.nih.gov/pubmed/27144235 http://dx.doi.org/10.7874/jao.2016.20.1.53 |