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Article

Auditory Phenotype of Niemann-Pick Disease, Type C1

13 Nov 2013

Abstract excerpt

In Brief Objectives: The aim of this study was to comprehensively evaluate the auditory phenotype in Niemann-Pick disease, type C1 (NPC1), to understand better the natural history of this complex, heterogeneous disorder, and to define further the baseline auditory deficits associated with NPC1 so that use of potentially ototoxic interventions (e.g., 2-hydroxypropyl-ß-cyclodextrin) may be more appropriately...

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PMID: 24225652
DOI: 10.1097/aud.0b013e3182a362b8

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