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1 evere immunodeficiency, autoinflammation and glycogen storage disease.
2 own animal models or storage is saturated in glycogen storage disease.
3 ders, including diabetes mellitus and type I glycogen storage disease.
4  used in three patients for the treatment of glycogen storage disease.
5 lasmic glycogen, morphologically mimicking a glycogen storage disease.
6 proposed as a therapeutic target in multiple glycogen storage diseases.
7 ce for cardiovascular involvement in various glycogen storage diseases.
8 apeutic approach for Pompe disease and other glycogen storage diseases.
9 iac disease, muscular disorders, cancer, and glycogen storage diseases.
10  of preexcitation in Pompe, Danon, and other glycogen storage diseases.
11 is mouse model mimics the pathophysiology of glycogen storage disease 0 patients and highlights the i
12 n GYS2 cause the inherited monogenic disease glycogen storage disease 0.
13                                              Glycogen Storage Disease 1a (GSD1a) is a rare, inherited
14 ns in G6Pase result in Von Gierke's disease (glycogen storage disease-1a), a potentially fatal geneti
15 deficiency in both human and mice results in glycogen storage disease along with liver enlargement an
16 orn error of metabolism classified as both a glycogen storage disease and a congenital disorder of gl
17  how inactivating mutations in G6PC1 lead to glycogen storage disease, and how elevated G6PC1 and G6P
18 in cardiac development and function, several glycogen storage diseases are associated, at least indir
19                                              Glycogen storage diseases are important causes of myopat
20                                              Glycogen storage diseases are rare conditions affecting
21 cell line from a child with Pompe disease, a glycogen storage disease caused by a defect in the enzym
22                             Pompe disease, a glycogen storage disease caused by mutations in acid alp
23  LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also
24 st to G6PT1 knock-out mice and patients with glycogen storage disease, excess hepatic and renal glyco
25 phthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DG
26                                       Type I glycogen storage disease (GSD) is caused by a deficiency
27  was also characterized in the PhK-deficient glycogen storage disease (gsd) rat.
28                                              Glycogen storage disease (GSD) type 1a is an inborn erro
29 tase catalytic subunit (G6Pase) give rise to glycogen storage disease (GSD) type 1a, which is charact
30 a and/or neutrophil dysfunction secondary to glycogen storage disease (GSD) type 1b.
31             It is a long-standing enigma how glycogen storage disease (GSD) type I patients retain a
32 atory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predomi
33                                              Glycogen storage disease (GSD) type IX gamma2 is a rare
34        The clinical manifestations of type 1 glycogen storage disease (GSD-1) in patients deficient i
35              The goal of treatment of type I glycogen storage disease (GSD-I) is to prevent hypoglyce
36                                      Type Ib glycogen storage disease (GSD-Ib) is caused by a deficie
37                                              Glycogen storage diseases (GSDs) are a group of rare, mo
38                                              Glycogen storage diseases (GSDs) are severe human disord
39                                              Glycogen storage diseases (GSDs) comprise over 15 entiti
40 of glycogen appears as a hallmark in various glycogen storage diseases (GSDs), including Pompe, Cori,
41 eview is the development of gene therapy for glycogen storage diseases (GSDs).
42    Studies now focus on associations between glycogen storage disease, hepatic adenoma formation and
43 inase (M-PFK) deficiency is a rare inherited glycogen storage disease in humans that causes exertiona
44 dy describes the first example of a dominant glycogen storage disease in humans, and elucidates the u
45 nes (Z-disc hypertrophic cardiomyopathy) and glycogen storage diseases mimicking hypertrophic cardiom
46 n 10 hepatic adenomas each and no history of glycogen storage disease or anabolic steroid use.
47  glucose homeostasis and explain why type Ia glycogen storage disease patients, lacking a functional
48                                 It is unlike glycogen storage diseases resulting from known defects i
49                                          For glycogen storage diseases, studies on the natural histor
50 glycogen synthase underlies this new form of glycogen storage disease that differs from a previously
51                                              Glycogen storage disease type 1 (GSD-1) is a group of ge
52                                              Glycogen storage disease type 1a (GSD-1a) is caused by a
53                                Patients with glycogen storage disease type 1a (GSD-1a) primarily pres
54                                              Glycogen storage disease type 1a (GSD-1a), characterized
55                                              Glycogen storage disease type 1a is caused by a deficien
56 ficiency, familial hypercholesterolemia, and glycogen storage disease type 1a) were found to recapitu
57 he key enzyme in glucose homeostasis, causes glycogen storage disease type 1a, an autosomal recessive
58 nding of the effects of mutations that cause glycogen storage disease type 1a.
59 reticulum transmembrane glycoprotein, causes glycogen storage disease type 1a.
60 ydrolase activity form the clinical basis of glycogen storage disease type 1a.
61                                              Glycogen storage disease type 1b (GSD-1b) is an autosoma
62                                              Glycogen storage disease type 1b (GSD-1b) is proposed to
63 lar glucose transporter G6PT, cause the rare glycogen storage disease type 1b (GSD1b).
64                                              Glycogen storage disease type 1b is caused by a deficien
65 nsmembrane protein of 429 amino acids, cause glycogen storage disease type 1b.
66                                              Glycogen storage disease type HI (GSD-III), an autosomal
67 HCA) is a frequent long-term complication of glycogen storage disease type I (GSD I) and malignant tr
68                                              Glycogen storage disease type Ia (GSD Ia) is caused by a
69 iency, also known as von Gierke's Disease or Glycogen storage disease type Ia (GSD Ia), is characteri
70                                              Glycogen storage disease type Ia (GSD-Ia) is characteriz
71  a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal
72                                              Glycogen storage disease type Ia (GSD-Ia), deficient in
73                                              Glycogen storage disease type Ia (GSD-Ia), which is char
74                                              Glycogen storage disease type Ia (GSDIa) is a rare metab
75                                              Glycogen storage disease type Ia (GSDIa, von Gierke dise
76 s due to glucose-6 phosphate accumulation in glycogen storage disease type Ia kidneys, toward a Warbu
77 primary cilium structure and cystogenesis in glycogen storage disease type Ia kidneys.
78                                              Glycogen storage disease type Ib (GSD-Ib) is an autosoma
79                                              Glycogen storage disease type Ib (GSD-Ib) is an autosoma
80                                              Glycogen storage disease type Ib (GSD-Ib) is caused by a
81                                              Glycogen storage disease type Ib (GSD-Ib) is caused by a
82                                              Glycogen storage disease type Ib (GSD-Ib) is caused by a
83                                              Glycogen storage disease type Ib (GSD-Ib) is caused by a
84                                              Glycogen storage disease type Ib (GSD-Ib) is caused by d
85 infections and inflammatory bowel disease in glycogen storage disease type Ib (GSD-Ib).
86 or neutropenia and neutrophil dysfunction in glycogen storage disease type Ib is poorly understood.
87                                              Glycogen storage disease type Ib, characterized by distu
88 ie neutropenia and neutrophil dysfunction in glycogen storage disease type Ib.
89                                Patients with glycogen storage disease type II (GSD II) typically excr
90                    Its deficiency results in glycogen storage disease type II (GSDII) variants includ
91                 One disorder, Pompe Disease (Glycogen storage disease type II (GSDII)), remains relat
92                                              Glycogen storage disease type II (GSDII), caused by a de
93  classic infantile-onset autosomal recessive glycogen storage disease type II (GSDII).
94  late (adult)-onset acid maltase deficiency (glycogen storage disease type II [GSD II]), glycogen acc
95 s of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults
96 ological conditions including Pompe disease (glycogen storage disease type II), which is caused by a
97 ed gene targeting to create a mouse model of glycogen storage disease type II, a disease in which dis
98                  The muscle disease treated, glycogen storage disease type II, is a lysosomal storage
99                                              Glycogen storage disease type III (GSD-III) is caused by
100    Genetic deficiency of AGL activity causes glycogen storage disease type III (GSD-III).
101                                              Glycogen storage disease type III (GSDIII) is a metaboli
102                                              Glycogen storage disease type III (GSDIII) is a rare inb
103                                              Glycogen storage disease type IV (GSD IV) is a rare auto
104                                              Glycogen storage disease type IV (GSD IV) is a rare auto
105                                              Glycogen storage disease type IV (GSD IV) is a rare auto
106                                              Glycogen storage disease type IV (GSD-IV) is an autosoma
107                                              Glycogen storage disease type VI (GSD6) defines a group
108     Mutations inhibiting PFK1 activity cause glycogen storage disease type VII, also known as Tarui d
109                                              Glycogen storage disease type-Ia (GSD-Ia) is caused by a
110 e-alpha (G6Pase-alpha or G6PC) deficiency in glycogen storage disease type-Ia (GSD-Ia) leads to impai
111 G6PC1-R83C variant displays the phenotype of glycogen storage disease type-Ia and dies prematurely.
112 tic for homozygous and compound heterozygous glycogen storage disease type-Ia patients carrying the G
113                                              Glycogen storage disease type-Ia patients, deficient in
114                                              Glycogen storage disease type-Ib (GSD-Ib), deficient in
115 enes encoding P36 or P46 have been linked to glycogen storage diseases type Ia and type Ib, respectiv
116                                              Glycogen-storage disease type 1 (GSD-1), also known as "
117                                   "Lysosomal glycogen storage disease with normal acid maltase" which
118                                              Glycogen storage disease XI, also known as Fanconi-Bicke

 
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