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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: M Parezanović,  N Ilić,  S Ostojić,  G Stevanović,  J Ječmenica,  A Maver and  A Sarajlija  
Open Access
|Jul 2023

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
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
Audiogram approximation showing “cookie bite” type of symmetric sensorineural hearing impairment
DOI: https://doi.org/10.2478/bjmg-2023-0008 | Journal eISSN: 2199-5761
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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
Publication frequency: 2 issues per year
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.

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