Cochlear implantation and audiological findings in a child with Zellweger spectrum disorder

Peroxisome Biogenesis Disorders in the Zellweger Spectrum (PBD-ZSD) are autosomal recessive disorders characterized by defects in functional peroxisomes. Clinical manifestations can range in severity and age at presentation and often include retinitis pigmentosa, neuroregression, and peripheral neur...

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Bibliographic Details
Main Authors: Amit Walia, Amy Lynn Birath, Craig A. Buchman
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Otolaryngology Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2468548823000085