Refsum’s Disease and Cochlear Implantation-Reference-Cited by-同舟云学术

Refsum’s Disease and Cochlear Implantation

Published:2014-04-01 Issue:6 Volume:123 Page:425-427
ISSN:0003-4894
Container-title:Annals of Otology, Rhinology & Laryngology
language:en
Short-container-title:Ann Otol Rhinol Laryngol

Author:

Nogueira Claudia¹,Meehan Thomasina¹,O’Donoghue Gerard¹

Affiliation:

1. Directorate of Otorhinolaryngology & Head and Neck Surgery, Queen’s Medical Centre, Nottingham, UK

Abstract

Objectives: The objective was to describe a case of bilateral cochlear implantation in a 59-year-old man with hearing and visual impairment due to Refsum’s disease. Method: A retrospective case review was performed. Results: After cochlear implantation, the patient demonstrated much improved audiometric performance and reported improved sound localization. Conclusions: Bilateral cochlear implantation is an important strategy in the improvement of hearing and quality of life in individuals with Refsum’s disease.

Publisher

SAGE Publications

Subject

General Medicine,Otorhinolaryngology

Link

http://journals.sagepub.com/doi/pdf/10.1177/0003489414526846

Reference9 articles.

1. A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARα-dependent and -independent pathways

2. Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

3. Identification of PEX7 as the Second Gene Involved in Refsum Disease

4. The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

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