Cargando…
Multiomics tools for the diagnosis and treatment of rare neurological disease
Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unidentified or underreported causes of rare neurologi...
Autores principales: | Crowther, L. M., Poms, M., Plecko, Barbara |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959950/ https://www.ncbi.nlm.nih.gov/pubmed/29536202 http://dx.doi.org/10.1007/s10545-018-0154-7 |
Ejemplares similares
-
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
por: Graham, Emma, 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) -
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) -
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy
por: Martens, Jonathan, 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)