ライフサイエンスコーパス: glycogen storage disease

1 ders, including diabetes mellitus and type I glycogen storage disease.

2 used in three patients for the treatment of glycogen storage disease.

3 lasmic glycogen, morphologically mimicking a glycogen storage disease.

4 of preexcitation in Pompe, Danon, and other glycogen storage diseases.

5 is mouse model mimics the pathophysiology of glycogen storage disease 0 patients and highlights the i

6 n GYS2 cause the inherited monogenic disease glycogen storage disease 0.

7 ns in G6Pase result in Von Gierke's disease (glycogen storage disease-1a), a potentially fatal geneti

8 orn error of metabolism classified as both a glycogen storage disease and a congenital disorder of gl

9 Glycogen storage diseases are important causes of myopat

10 LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also

11 st to G6PT1 knock-out mice and patients with glycogen storage disease, excess hepatic and renal glyco

12 phthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DG

13 Type I glycogen storage disease (GSD) is caused by a deficiency

14 was also characterized in the PhK-deficient glycogen storage disease (gsd) rat.

15 tase catalytic subunit (G6Pase) give rise to glycogen storage disease (GSD) type 1a, which is charact

16 a and/or neutrophil dysfunction secondary to glycogen storage disease (GSD) type 1b.

17 It is a long-standing enigma how glycogen storage disease (GSD) type I patients retain a

18 atory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predomi

19 The clinical manifestations of type 1 glycogen storage disease (GSD-1) in patients deficient i

20 The goal of treatment of type I glycogen storage disease (GSD-I) is to prevent hypoglyce

21 Studies now focus on associations between glycogen storage disease, hepatic adenoma formation and

22 inase (M-PFK) deficiency is a rare inherited glycogen storage disease in humans that causes exertiona

23 nes (Z-disc hypertrophic cardiomyopathy) and glycogen storage diseases mimicking hypertrophic cardiom

24 n 10 hepatic adenomas each and no history of glycogen storage disease or anabolic steroid use.

25 glucose homeostasis and explain why type Ia glycogen storage disease patients, lacking a functional

26 It is unlike glycogen storage diseases resulting from known defects i

27 For glycogen storage diseases, studies on the natural histor

28 glycogen synthase underlies this new form of glycogen storage disease that differs from a previously

29 Glycogen storage disease type 1 (GSD-1) is a group of ge

30 Glycogen storage disease type 1a (GSD-1a) is caused by a

31 Glycogen storage disease type 1a (GSD-1a), characterized

32 Glycogen storage disease type 1a is caused by a deficien

33 ficiency, familial hypercholesterolemia, and glycogen storage disease type 1a) were found to recapitu

34 he key enzyme in glucose homeostasis, causes glycogen storage disease type 1a, an autosomal recessive

35 nding of the effects of mutations that cause glycogen storage disease type 1a.

36 reticulum transmembrane glycoprotein, causes glycogen storage disease type 1a.

37 Glycogen storage disease type 1b (GSD-1b) is an autosoma

38 Glycogen storage disease type 1b (GSD-1b) is proposed to

39 Glycogen storage disease type 1b is caused by a deficien

40 nsmembrane protein of 429 amino acids, cause glycogen storage disease type 1b.

41 Glycogen storage disease type HI (GSD-III), an autosomal

42 HCA) is a frequent long-term complication of glycogen storage disease type I (GSD I) and malignant tr

43 Glycogen storage disease type Ia (GSD-Ia) is characteriz

44 a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal

45 Glycogen storage disease type Ia (GSD-Ia), which is char

46 Glycogen storage disease type Ia (GSDIa, von Gierke dise

47 Glycogen storage disease type Ib (GSD-Ib) is an autosoma

48 Glycogen storage disease type Ib (GSD-Ib) is caused by a

49 Glycogen storage disease type Ib (GSD-Ib) is caused by a

50 Glycogen storage disease type Ib (GSD-Ib) is caused by a

51 Glycogen storage disease type Ib (GSD-Ib) is caused by a

52 Glycogen storage disease type Ib (GSD-Ib) is caused by d

53 or neutropenia and neutrophil dysfunction in glycogen storage disease type Ib is poorly understood.

54 Glycogen storage disease type Ib, characterized by distu

55 ie neutropenia and neutrophil dysfunction in glycogen storage disease type Ib.

56 Patients with glycogen storage disease type II (GSD II) typically excr

57 Its deficiency results in glycogen storage disease type II (GSDII) variants includ

58 Glycogen storage disease type II (GSDII), caused by a de

59 classic infantile-onset autosomal recessive glycogen storage disease type II (GSDII).

60 late (adult)-onset acid maltase deficiency (glycogen storage disease type II [GSD II]), glycogen acc

61 s of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults

62 ological conditions including Pompe disease (glycogen storage disease type II), which is caused by a

63 ed gene targeting to create a mouse model of glycogen storage disease type II, a disease in which dis

64 The muscle disease treated, glycogen storage disease type II, is a lysosomal storage

65 Glycogen storage disease type III (GSD-III) is caused by

66 Genetic deficiency of AGL activity causes glycogen storage disease type III (GSD-III).

67 Glycogen storage disease type III (GSDIII) is a metaboli

68 Glycogen storage disease type IV (GSD IV) is a rare auto

69 Glycogen storage disease type IV (GSD IV) is a rare auto

70 Glycogen storage disease type IV (GSD-IV) is an autosoma

71 Glycogen storage disease type VI (GSD6) defines a group

72 Mutations inhibiting PFK1 activity cause glycogen storage disease type VII, also known as Tarui d

73 Glycogen storage disease type-Ia (GSD-Ia) is caused by a

74 Glycogen storage disease type-Ib (GSD-Ib), deficient in

75 enes encoding P36 or P46 have been linked to glycogen storage diseases type Ia and type Ib, respectiv

76 Glycogen-storage disease type 1 (GSD-1), also known as "

77 "Lysosomal glycogen storage disease with normal acid maltase" which