1,721,604 research outputs found
Le basi genetiche della Sclerosi Laterale Amiotrofica: un “puzzle” ancora tutto da completare
No full textM. Romei, M.G. D’Angelo, A. Lo Mauro, S. Bonato, S.Gandossini, A.C. Turconi, G.P. Comi, E. Marchi, A. Pedotti, N.Bresolin, A. Aliverti
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Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency
Full text linkDeficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patient
Glicogenosi di tipo III: rivalutazione delle caratteristiche cliniche e genetiche dei pazienti e stato dell’arte sul modello murino knock-out.
No full textExpression levels and gene function influence transposon occurrence in mammalian introns
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