TY  - BOOK
AU  - Rus, Corina-Marcela
PY  - 2024
DA  - 2024//
TI  - Liquid chromatography - mass spectrometry untargeted metabolomics application towards biomarker discovery for neuronal ceroid lipofuscinosis type 6 disease
PB  - Universität Rostock
CY  - Rostock
AB  - 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>
UR  - https://purl.uni-rostock.de/rosdok/id00004756
UR  - https://nbn-resolving.org/urn:nbn:de:gbv:28-rosdok_id00004756-2
UR  - https://d-nb.info/1361954337/34
UR  - https://doi.org/10.18453/rosdok_id00004756
DO  - 10.18453/rosdok_id00004756
LA  - English
N1  - vorgelegt von Corina-Marcela Rus
ID  - 1920644407
ER  -