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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9866746/ https://www.ncbi.nlm.nih.gov/pubmed/36675224 http://dx.doi.org/10.3390/ijms24021709 |