Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

BACKGROUND: Previous work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD). Using plasma and dried blood spots (DBS) collected in an ongoing natural histo...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Kirby, Trevor, Walters, Dana C., Shi, Xutong, Turgeon, Coleman, Rinaldo, Piero, Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, DiBacco, Melissa, Pearl, Phillip L., Roullet, Jean-Baptiste, Gibson, K. Michael
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7510106/
https://ncbi.nlm.nih.gov/pubmed/32967698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01522-5
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