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Syndromic Autism Spectrum Disorder: Let Us Not Forget about Succinic Semialdehyde Dehydrogenase Deficiency. A Case Report with Literature Review
We describe a girl with syndromic autism spectrum disorder (ASD), who at the end of the medical workup proved affected by a succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal-recessive disorder of degradation of the γ-aminobutyric acid (GABA), that is, the most important centra...
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| Publicat a: | J Pediatr Neurosci |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer - Medknow
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7847100/ https://ncbi.nlm.nih.gov/pubmed/33531951 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_171_19 |
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