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
Autores principales: Brown, Madalyn, Turgeon, Coleman, Rinaldo, Piero, Pop, Ana, Salomons, Gajja S., Roullet, Jean‐Baptiste, Gibson, K. Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203655/
https://www.ncbi.nlm.nih.gov/pubmed/32395407
http://dx.doi.org/10.1002/jmd2.12075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203655/
https://www.ncbi.nlm.nih.gov/pubmed/32395407
http://dx.doi.org/10.1002/jmd2.12075

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