Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with thi...

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Detalles Bibliográficos
Autores principales: Parezanović, M, Ilić, N, Ostojić, S, Stevanović, G, Ječmenica, J, Maver, A, Sarajlija, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413887/
https://www.ncbi.nlm.nih.gov/pubmed/37576789
http://dx.doi.org/10.2478/bjmg-2023-0008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413887/
https://www.ncbi.nlm.nih.gov/pubmed/37576789
http://dx.doi.org/10.2478/bjmg-2023-0008

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