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Glicogenesi di tipo 3. : rivalutazione delle caratteristiche cliniche e genetiche e dei pazienti e progetto per la generazione di un modello murino knock-out : dottorato di ricerca in medicina molecolare

Pagliarani, Serena <1981- >

Tesi o dissertazioni - 2009

Riassunto Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by the deficiency of debranching enzyme. Hepatomegaly and fasting hypoglycemia are the predominant features in childhood while myopathy usually becomes important in adulthood manifesting as slowly progressive muscle weakness. In order to better understand the wide clinical and genetic variability of GSDIII we analyzed biochemical, clinical and genetic data of 51 patients. Glycogen debranching activity was absent in all patients analyzed. 70% of patients was genetically fully characterized showing that mutations are widespread along the whole gene and that only few of them are recurrent in patients, like IVS21+1G>A in the Italian patients. The others are private mutations and the most of them are splicing mutations. From the clinical point of view, we observed an inverse correlation between transaminase levels and age, with high levels in the first decade of life and a progressive reduction in adulthood [...]
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