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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...
Autores principales: | Parezanović, M, Ilić, N, Ostojić, S, Stevanović, G, Ječmenica, J, Maver, A, Sarajlija, A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2023
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Materias: | |
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 |
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