Gamma-Hydroxybutyrate Content in Dried Bloodspots Facilitates Newborn Detection of Succinic Semialdehyde Dehydrogenase Deficiency

Increased gamma-hydroxybutyric acid in urine and blood are metabolic hallmarks of succinic semialdehyde dehydrogenase deficiency, a defect of 4-aminobutyric acid metabolism. Here, we examined the hypothesis that succinic semialdehyde dehydrogenase deficiency could be identified via measurement of ga...

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Publicado en:Mol Genet Metab
Autores principales: Brown, Madalyn, Ashcraft, Paula, Arning, Erland, Bottiglieri, Teodoro, Roullet, Jean-Baptiste, Gibson, K. Michael
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961708/
https://ncbi.nlm.nih.gov/pubmed/31345667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.07.010
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