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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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Detalhes bibliográficos
Publicado no:J Pediatr Neurosci
Main Authors: Posar, Annio, Visconti, Paola
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer - Medknow 2020
Assuntos:
Acesso em linha: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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