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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,...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Kidney Dis (Basel)
Egile Nagusiak: Costanzo, Michele, Zacchia, Miriam, Bruno, Giuliana, Crisci, Daniela, Caterino, Marianna, Ruoppolo, Margherita
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2017
Gaiak:
Sarrera elektronikoa: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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