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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...
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| Vydáno v: | J Audiol Otol |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Korean Audiological Society
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4853892/ https://ncbi.nlm.nih.gov/pubmed/27144235 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7874/jao.2016.20.1.53 |
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