戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (1語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
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.
4 urodegenerative lysosomal storage disorders: sialidosis and galactosialidosis (GS).
5 n two neurodegenerative lysosomal disorders, sialidosis and galactosialidosis.
6 ndary deficiency of lysosomal neuraminidase: sialidosis and galactosialidosis.
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
17                                              Sialidosis is a rare genetic lysosomal storage disorder
18                                              Sialidosis is considered an orphan disorder with no ther
19                          A typical aspect of sialidosis is the finding of a macular cherry-red spot o
20 notypic abnormalities that seem specific for sialidosis mice.
21                                 Although the sialidosis mouse model shares clinical and histopatholog
22                                              Sialidosis (mucolipidosis I) is a glycoprotein storage d
23                                   Cells from sialidosis patients with a genetic deficiency of Neu1 sh
24 el mutations in the neuraminidase gene of 11 sialidosis patients with various degrees of disease pene
25 g frame of the mRNA from clinically distinct sialidosis patients.
26                                Patients with sialidosis present various neurological disorders such a