Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Author:
Funder
Radboud University Medical Center
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0131-6/fulltext.html
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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. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate - a practical and powerful approach to multiple testing. J R Stat Soc Ser B Methodol 57(1):289–300
4. Cuykx M, Negreira N, Beirnaert C et al (2017) Tailored liquid chromatography-mass spectrometry analysis improves the coverage of the intracellular metabolome of HepaRG cells. J Chromatogr A 1487:168–178. https://doi.org/10.1016/j.chroma.2017.01.050
5. Denes J, Szabo E, Robinette SL et al (2012) Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism. Anal Chem 84(22):10113–10120. https://doi.org/10.1021/ac302527m
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