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Journal of Neurology|July 2, 2009
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patientsA Caciotti, M Di Rocco, M Filocamo, et al.Human Molecular Genetics|December 1, 1996
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosisX Y Zhou, A van der Spoel, R Rottier, et al.Genes & Development|November 1, 1995
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cellsX Y Zhou, H Morreau, R Rottier, et al.Brain : a Journal of Neurology|March 5, 2003
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosisM Jeyakumar, R Thomas, E Elliot-Smith, et al.Pageof 6