Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

Analyses of 19 amino acids, 38 acylcarnitines, and 3 creatine analogues (https://clir.mayo.edu) were implemented to test the hypothesis that succinic semialdehyde dehydrogenase deficiency (SSADHD) could be identified in dried bloodspots (DBS) using currently available newborn screening methodology....

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Detalles Bibliográficos
Publicado en:JIMD Rep
Main Authors: Brown, Madalyn, Turgeon, Coleman, Rinaldo, Piero, Pop, Ana, Salomons, Gajja S., Roullet, Jean‐Baptiste, Gibson, K. Michael
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons, Inc. 2020
Assuntos:
Research Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7203655/
https://ncbi.nlm.nih.gov/pubmed/32395407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12075
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