Think big — think omics
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-018-0165-4/fulltext.html
Reference10 articles.
1. Abela L, Simmons L, Steindl K et al (2016) N-8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. J Inherit Metab Dis 39(1):131–137. https://doi.org/10.1007/s10545-015-9876-y
2. Abela L, Spiegel R, Crowther LM et al (2017) Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS One 12(5):e0176363. https://doi.org/10.1371/journal.pone.0176363
3. Coene KLM, Kluijtmans LAJ, van der Heeft E et al (2018) Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. J Inherit Metab Dis. https://doi.org/10.1007/s10545-017-0131-6
4. Garcia-Cazorla À, Mochel F, Lamari F et al (2015) The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. J Inherit Metab Dis 38(1):19–40. https://doi.org/10.1007/s10545-014-9776-6
5. Guerrero-Castillo S, Baertling F, Kownatzki D et al (2017) The assembly pathway of mitochondrial respiratory chain complex I. Cell Metab 25(1):128–139. https://doi.org/10.1016/j.cmet.2016.09.002
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