Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Zandl-Lang, M.
Tracing the lipidome in inborn errors of metabolism.
Biochim Biophys Acta Mol Cell Biol Lipids. 2024; 1869(5):159491
Doi: 10.1016/j.bbalip.2024.159491
Web of Science
PubMed
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- Führende Autor*innen der Med Uni Graz
- Zandl-Lang Martina
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- Abstract:
- Inborn errors of metabolism (IEM) represent a heterogeneous group of more than 1800 rare disorders, many of which are causing significant childhood morbidity and mortality. More than 100 IEM are linked to dyslipidaemia, but yet our knowledge in connecting genetic information with lipidomic data is limited. Stable isotope tracing studies of the lipid metabolism (STL) provide insights on the dynamic of cellular lipid processes and could thereby facilitate the delineation of underlying metabolic (patho)mechanisms. This mini-review focuses on principles as well as technical limitations of STL and describes potential clinical applications by discussing recently published STL focusing on IEM.
- Find related publications in this database (using NLM MeSH Indexing)
- Humans - administration & dosage
- Lipidomics - methods
- Lipid Metabolism - genetics
- Lipid Metabolism, Inborn Errors - metabolism, genetics
- Metabolism, Inborn Errors - metabolism, genetics
- Animals - administration & dosage
- Lipids - genetics
- Isotope Labeling - methods
- Find related publications in this database (Keywords)
- Metabolism
- Flux studies
- Rare diseases
- Mass spectrometry
- Lipids