%0 Book
%T Liquid chromatography - mass spectrometry untargeted metabolomics application towards biomarker discovery for neuronal ceroid lipofuscinosis type 6 disease
%A Rus, Corina-Marcela
%D 2024
%C Rostock
%C Universität Rostock
%G English
%F 1920644407
%O vorgelegt von Corina-Marcela Rus
%O Enthält Zeitschriftenartikel
%O GutachterInnen: Ralf Zimmermann (Institut für Chemie, Universität Rostock) ; Michael Lämmerhof (Mathematisch-Naturwissenschaftliche Fakultät, Abteilung Pharmazeutische Analytik und Bioanalytik, Eberhard-Karls-Universität Tübingen)
%O Dissertation Universität Rostock 2024 Kumulative Dissertation
%X 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.<eng>
%L 500
%9 theses
%9 Text
%9 Hochschulschrift
%R 10.18453/rosdok_id00004756
%U https://purl.uni-rostock.de/rosdok/id00004756
%U https://nbn-resolving.org/urn:nbn:de:gbv:28-rosdok_id00004756-2
%U https://d-nb.info/1361954337/34
%U https://doi.org/10.18453/rosdok_id00004756