Cargando…
Flux analysis of inborn errors of metabolism
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux o...
Autor principal: | Reijngoud, D.-J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959979/ https://www.ncbi.nlm.nih.gov/pubmed/29318410 http://dx.doi.org/10.1007/s10545-017-0124-5 |
Ejemplares similares
-
Inborn errors of metabolism and the human interactome: a systems medicine approach
por: Woidy, Mathias, et al.
Publicado: (2018) -
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
por: Coene, Karlien L. M., et al.
Publicado: (2018) -
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism
por: Körver-Keularts, Irene M. L. W., et al.
Publicado: (2018) -
Characterization of the metabolic profile associated with serum 25-hydroxyvitamin D: a cross-sectional analysis in population-based data
por: Vogt, Susanne, et al.
Publicado: (2016) -
Metabolic signatures of birthweight in 18 288 adolescents and adults
por: Würtz, Peter, et al.
Publicado: (2016)