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...

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Hlavní autoři: Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer Medknow Publications 2020-01-01
Edice:Annals of Indian Academy of Neurology
Témata:
4-hydroxybutyric acid
aldehyde dehydrogenase 5 family
member a1 gene
succinic semialdehyde dehydrogenase deficiency
stroke mimic
vigabatrin
On-line přístup:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=1;spage=113;epage=117;aulast=Yoganathan
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