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Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency Cover

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 1 (July 2023)
By: ,  ,  ,  ,  ,   and    
Open Access
|Jul 2023
Figures & tables

Figures & Tables

Figure 1.

Brain MRI scan at the age of 15 months in a boy with SSADH deficiency revealing incomplete myelination and signal hyperintensity in globi pallidi

Figure 2.

Audiogram approximation showing “cookie bite” type of symmetric sensorineural hearing impairment

DOI: https://doi.org/10.2478/bjmg-2023-0008 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 63 - 68
Published on: Jul 31, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
ALDH5A1,
cookie-bite audiogram,
gamma-aminobutyric acid,
sensorineural hearing loss,
succinic semialdehyde dehydrogenase deficiency
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2023 M Parezanović, N Ilić, S Ostojić, G Stevanović, J Ječmenica, A Maver, A Sarajlija, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 26 (2023): Issue 1 (July 2023)
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