@Book{1920644407, author="Rus, Corina-Marcela", title="Liquid chromatography - mass spectrometry untargeted metabolomics application towards biomarker discovery for neuronal ceroid lipofuscinosis type 6 disease", year="2024", address="Rostock", abstract="Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) is a rare, inherited, neurodegenerative childhood disease that affects the nervous system. This thesis aimed to explore the global metabolic profiling in CLN6-affected patients using LC-MS-based metabolomics. This thesis assessed the feasibility of dried blood spot (DBS) card samples for metabolomics-based biomarker discovery. Additionally, genotypic-phenotypic features were analyzed in 97 CLN6 patients. The study expanded its focus on cell lines' metabolomics to gain deeper insights into CLN6 metabolism.", school="Universit{\"a}t Rostock", note="vorgelegt von Corina-Marcela Rus", note="Enth{\"a}lt Zeitschriftenartikel", note="GutachterInnen: Ralf Zimmermann (Institut f{\"u}r Chemie, Universit{\"a}t Rostock) ; Michael L{\"a}mmerhof (Mathematisch-Naturwissenschaftliche Fakult{\"a}t, Abteilung Pharmazeutische Analytik und Bioanalytik, Eberhard-Karls-Universit{\"a}t T{\"u}bingen)", note="Dissertation Universit{\"a}t Rostock 2024 Kumulative Dissertation", doi="10.18453/rosdok_id00004756", url="https://purl.uni-rostock.de/rosdok/id00004756", url="https://nbn-resolving.org/urn:nbn:de:gbv:28-rosdok_id00004756-2", url="https://d-nb.info/1361954337/34", url="https://doi.org/10.18453/rosdok_id00004756", language="English" }