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Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and atax...

詳細記述

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書誌詳細
出版年:Ann Indian Acad Neurol
主要な著者: Yoganathan, Sangeetha, Arunachal, Gautham, Kratz, Lisa, Varman, Mugil, Thomas, Maya, Sudhakar, Sniya Valsa, Oommen, Samuel Philip, Danda, Sumita
フォーマット: Artigo
言語:Inglês
出版事項: Medknow Publications & Media Pvt Ltd 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7001443/
https://ncbi.nlm.nih.gov/pubmed/32055132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_213_18
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