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1 V-mediated gene therapy for the treatment of sialidosis.
2 a young female patient suffering from type 1 sialidosis.
3 ature, a case of BP in a patient with type 1 sialidosis.
7 erences and similarities identified in these sialidosis and GS mice may help to better understand the
8 plain the clinical heterogeneity observed in sialidosis and may help in the assignment of existing or
9 ted gene therapy as a suitable treatment for sialidosis and possibly other diseases, associated with
10 NEU1-deficient mice, a model of the disease sialidosis, and in patients' fibroblasts, oversialylated
11 neurodegenerative lysosomal storage disease sialidosis, and its targeting to and stability in lysoso
12 , and is deficient in two genetic disorders: sialidosis, caused by a structural defect in the neurami
13 eficient in two lysosomal storage disorders, sialidosis, caused by structural mutations in the neuram
14 8-year-old young woman suffering from type 1 sialidosis, confirmed by previously described compound h
15 cal abnormalities reminiscent of early-onset sialidosis in children, including severe nephropathy, pr
16 ese results establish the molecular basis of sialidosis in these patients, and clearly identify the c
24 el mutations in the neuraminidase gene of 11 sialidosis patients with various degrees of disease pene