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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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Détails bibliographiques
Auteurs principaux: King, Kelly, Gordon-Salant, Sandra, Yanjanin, Nicole, Zalewski, Christopher, Houser, Ari, Porter, Forbes, Brewer, Carmen Crowell
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Accès en ligne: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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