1 urodegenerative lysosomal storage disorders: sialidosis and galactosialidosis (GS).

2 ndary deficiency of lysosomal neuraminidase: sialidosis and galactosialidosis.

3 n two neurodegenerative lysosomal disorders, sialidosis and galactosialidosis.

4 erences and similarities identified in these sialidosis and GS mice may help to better understand the

5 plain the clinical heterogeneity observed in sialidosis and may help in the assignment of existing or

6  NEU1-deficient mice, a model of the disease sialidosis, and in patients' fibroblasts, oversialylated

7 , and is deficient in two genetic disorders: sialidosis, caused by a structural defect in the neurami

8 eficient in two lysosomal storage disorders, sialidosis, caused by structural mutations in the neuram

9 cal abnormalities reminiscent of early-onset sialidosis in children, including severe nephropathy, pr

10 ese results establish the molecular basis of sialidosis in these patients, and clearly identify the c

11 notypic abnormalities that seem specific for sialidosis mice.

12                                 Although the sialidosis mouse model shares clinical and histopatholog

13                                   Cells from sialidosis patients with a genetic deficiency of Neu1 sh

14 el mutations in the neuraminidase gene of 11 sialidosis patients with various degrees of disease pene

15 g frame of the mRNA from clinically distinct sialidosis patients.