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

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

Abstract 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 meth...

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Bibliographic Details
Main Authors: Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:JIMD Reports
Subjects:
acylcarnitines
amino acids
creatine
dried bloodspots
newborn screening
succinic semialdehyde dehydrogenase deficiency
Online Access:https://doi.org/10.1002/jmd2.12075

Internet

https://doi.org/10.1002/jmd2.12075

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