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 who had received ERT for 3 years or more for Gaucher's disease.
2 nt of the lysosomal storage disease known as Gaucher's disease.
3  as recessive X-linked ichthyosis and type 2 Gaucher's disease.
4 its safety and feasibility for neuronopathic Gaucher's disease.
5 for patients with type 1 (non-neuronopathic) Gaucher's disease.
6 s key clinical features of non-neuronopathic Gaucher's disease.
7 a novel oral treatment for non-neuronopathic Gaucher's disease.
8  5 patients (age, 3.5-8.5 years) with type 3 Gaucher's disease.
9 asis for use of this therapy in treatment of Gaucher's disease.
10                        The primary defect in Gaucher's disease, a lysosomal disorder affecting macrop
11 totriosidase activity (a sensitive marker of Gaucher's disease activity).
12 rosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disea
13    Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutation
14 T reverses systemic manifestations of type 3 Gaucher's disease and appears to reduce the burden of Ga
15 mutations leading to misfolded protein cause Gaucher's disease and are a major genetic risk factor fo
16 osidase cause the lysosomal storage disorder Gaucher's disease and are the most common risk factor fo
17 t the clonal immunoglobulin in patients with Gaucher's disease and in mouse models of Gaucher's disea
18 m was noted, albeit rarely, in patients with Gaucher's disease and more frequently in relatives who w
19                  Patients with neuronopathic Gaucher's disease and similar central nervous system dis
20  respectively) in eight patients with type 1 Gaucher's disease, and in one healthy individual.
21 es the lysosomal enzyme that is deficient in Gaucher's disease, are important and common risk factors
22 beta-glucocerebrosidase (GCase), which cause Gaucher's disease, are the most frequent genetic risk fa
23 e activation by lysolipids may underlie both Gaucher's disease-associated gammopathies and some spora
24              Substrate reduction ameliorates Gaucher's disease-associated gammopathy in mice.
25 ith Gaucher's disease and in mouse models of Gaucher's disease-associated gammopathy is reactive agai
26                                              Gaucher's disease, characterized by <15% of normal gluco
27                                              Gaucher's disease continues to be a model for applicatio
28                                 For example, Gaucher's disease GBA1 mutations leading to defects in l
29                    Mutations in GC result in Gaucher's disease (GD) and are the major genetic risk fa
30 ations in the GCase encoding gene GBA1 cause Gaucher's disease (GD) and present the highest genetic r
31 cerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive
32                                              Gaucher's disease (GD) is characterized by loss of lysos
33                                              Gaucher's disease (GD), an inherited metabolic disorder
34 sponsible for the lysosomal storage disorder Gaucher's disease (GD), are the strongest genetic risk f
35 tations cause the lysosomal storage disorder Gaucher's disease (GD).
36              Systemic enzyme replacement for Gaucher's disease has not prevented premature death or s
37                                Patients with Gaucher's disease have an increased risk of monoclonal g
38 successfully introduced for the treatment of Gaucher's disease in the early 1990s.
39                        Current treatment for Gaucher's disease involves administration of intravenous
40                                              Gaucher's disease is a common genetic disease caused by
41                                              Gaucher's disease is a lysosomal disease caused by mutat
42 clerosis, and less familiar diseases such as Gaucher's disease, nephrogenic diabetes insipidus, and C
43                               In addition to Gaucher's disease, the effects of ERT in four other majo
44 cerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage dis
45 mitochondria will inform new Parkinson's and Gaucher's disease therapeutics.
46 al and organ volume stability in adults with Gaucher's disease type 1 already controlled by intraveno
47                The mainstay of treatment for Gaucher's disease type 1 is alternate-week infusion of e
48 ts with various cancers and one patient with Gaucher's disease, whether or not the patient cells had