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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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Dades bibliogràfiques
Publicat a:J Pediatr Neurosci
Autors principals: Posar, Annio, Visconti, Paola
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer - Medknow 2020
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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