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Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases
BACKGROUND: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders include aminoacidopathies, urea cycle defects, organic acidemias, defects of oxidation of fatty acids,...
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| Publicado en: | Kidney Dis (Basel) |
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| Autores principales: | , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
S. Karger AG
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5567043/ https://ncbi.nlm.nih.gov/pubmed/28868294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000477493 |
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