Audiologic follow up results of child with NGLY1 deficiency

Article Sidebar

PDF DOI
Published: 2023-06-23
Keywords:
Array, Array, Array, Array, Array

Main Article Content

Ogulcan Gundogdu
Istanbul University-Cerrahpasa, Faculty of Health Sciences, Department of Audiology, Istanbul, Türkiye
Cem Yeral
Istanbul University-Cerrahpasa, Faculty of Health Sciences, Department of Audiology, Istanbul, Türkiye
Oguz Yilmaz
Istanbul Medipol University, Faculty of Health Sciences, Department of Audiology, Istanbul, Türkiye
Yildirim Ahmet Bayazit
Istanbul Medipol University, Faculty of Medicine, Department of Otolaryngology, Istanbul, Türkiye

Abstract

NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.

Downloads

Download data is not yet available.

Article Details

Issue

Vol. 30 No. 6 (2023): June

Section

Case Reports
Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

CC Attribution-NonCommercial-NoDerivatives 4.0

How to Cite

1.
Audiologic follow up results of child with NGLY1 deficiency. Ann Med Res [Internet]. 2023 Jun. 23 [cited 2026 Apr. 15];30(6):737-9. Available from: http://www.annalsmedres.org/index.php/aomr/article/view/4443

References