Blättern Human- und Zahnmedizin nach "Gärtner, Jutta Prof. Dr." Betreuer
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Analyse des PEX1-Gens bei Patienten mit Zellweger-Syndrom: Identifikation einer neuen Deletion und Untersuchung von Polymorphismen in der 5'-untranslatierten Region
(2011-07-14)Zellweger spectrum disorders are autosomal recessive peroxisomal metabolic diseases. Mutations in the PEX1 gene are the most common cause. This thesis deals with the analysis of the PEX1 ... -
Charakterisierung von positiven und negativen Prädiktoren für eine erfolgreiche Adipositastherapie im Kindes- und Jugendalter nach Abschluss der Behandlung
(2020-02-17)So far, success in the treatment of obesity in children and adolescents has been limited. This raises the question how current therapeutic concepts can be optimized. Consequently, it plays a key role to detect predictors ... -
Influence of Age at Onset and Obesity on Pediatric Multiple Sclerosis
(2024-01-19)Pediatric multiple sclerosis has many parallels to adult multiple sclerosis, however, the initial disease course is generally associated with more relapses yet better recovery and slower disability progression than in ... -
Mechanismus der Neuentstehung von Peroxisomen in Saccharomyces cerevisiae
(2010-02-01)In this thesis, it was tried to investigate the mechanisms of the new formation of peroxisomes, i.e. whether precursors of peroxisomes mature or whether they merge with each other. To clarify ... -
Multiple Sklerose im Kindes- und Jugendalter – klinische und neuroradiologische Besonderheiten
(2015-09-09)Multiple sclerosis is the most frequently diagnosed chronic inflammatory disease of the central nervous system. In children and adolescents it is increasingly diagnosed. Differences in clinical and neuroradiological ... -
Systematisches Review und Metaanalyse publizierter Fallberichte zu Multipler Sulfatase Defizienz
(2023-06-23)Multiple Sulfatase Deficiency (MSD, MIM #272200) is an ultra-rare lysosomal storage disorder that results from mutations in the SUMF1 gene, which encodes formylglycine-generating enzyme (FGE). Pathogenic variants in SUMF1 ...