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Auditory Phenotype of Niemann-Pick Disease, Type C1
Niemann-Pick disease, type C1 (NPC1) is a rare autosomal recessive lysosomal lipidosis resulting in a progressive and fatal neurological deterioration. There is limited evidence suggesting auditory dysfunction is an aspect of the phenotype, but one that is poorly understood and, likely, underreporte...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3895917/ https://ncbi.nlm.nih.gov/pubmed/24225652 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/AUD.0b013e3182a362b8 |
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