Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases
Even though the application of Next-Generation Sequencing (NGS) has significantly facilitated the identification of disease-associated mutations, the diagnostic rate of rare diseases is still below 50%. This causes a diagnostic odyssey and prevents specific treatment, as well as genetic counseling f...
Main Authors: | Martina Zandl-Lang, Barbara Plecko, Harald Köfeler |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-01-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/24/2/1709 |
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