ライフサイエンスコーパス: Pompe disease

1 scle and the nervous system for treatment of Pompe disease.

2 sful correction of neuromuscular function in Pompe disease.

3 ls but was strongly induced in patients with Pompe disease.

4 (GAA) has achieved only partial efficacy in Pompe disease.

5 xial weakness it may raise the suspicion for Pompe disease.

6 sis and differential diagnosis of late-onset Pompe disease.

7 (GAA), the enzyme deficient in patients with Pompe disease.

8 mal initial test for confirming or excluding Pompe disease.

9 Deficiency of GAA causes Pompe disease.

10 ciated virus-mediated gene-based therapy for Pompe disease.

11 ing for the development of new therapies for Pompe disease.

12 targeting muscle alone may be ineffective in Pompe disease.

13 of 21 patients with enzymatically confirmed Pompe disease.

14 oratories to help establish the diagnosis of Pompe disease.

15 e disease type II (GSDII) variants including Pompe disease.

16 of correcting fibroblasts from patients with Pompe disease.

17 ation of glycogen in lysosomes, resulting in Pompe disease, a lysosomal storage disorder.

18 For example, for the therapy of Pompe disease, a severe metabolic myopathy and cardiomyo

19 hy (DMD), spinal muscular atrophy (SMA), and Pompe disease (acid maltase deficiency [AMD]), are candi

20 The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage

21 udy of albuterol in patients with late-onset Pompe disease already on ERT for >2 yr, who were not imp

22 ficacy of ERT in CRIM-negative patients with Pompe disease and in patients with other lysosomal stora

23 normal or only mildly elevated in late-onset Pompe disease and is not very helpful alone to suggest t

24 Increased cTnT levels in Pompe disease and likely other neuromuscular disorders s

25 ew mechanistic insight into the pathology of Pompe disease and suggest that early systemic correction

26 ge diseases: Gaucher disease, Fabry disease, Pompe disease and the mucopolysaccharidoses.

27 d uptake and trafficking of GAA in mice with Pompe disease, and a similarly enhanced benefit might be

28 e development of a gene therapy strategy for Pompe disease, and have led to the first clinical trial

29 Elevated plasma cTnT levels in patients with Pompe disease are associated with skeletal muscle damage

30 ages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal s

31 ment therapy (ERT) is the only treatment for Pompe disease but remains expensive, inconvenient, and d

32 ceiving enzyme replacement therapy (ERT) for Pompe disease, but the prevalence of ERT-induced renal c

33 nhance lysosomal alpha-glucosidase levels in Pompe disease fibroblasts, either when administered sing

34 id-alpha-glucosidase during ERT in mice with Pompe disease following addition of albuterol therapy.

35 number of pathological conditions including Pompe disease (glycogen storage disease type II), which

36 Enzyme replacement in Pompe disease has proved successful, improving outcome i

37 Pompe disease has resisted enzyme replacement therapy wi

38 al studies of enzyme replacement therapy for Pompe disease have indicated that relatively high doses

39 ho succumbed to respiratory complications of Pompe disease in the first week, only mild adverse event

40 We have also found that Pompe disease involves induction of autophagy but manife

41 d to ascertain whether autophagic buildup in Pompe disease is a consequence of induction of autophagy

42 Infantile Pompe disease is a fatal genetic muscle disorder caused

43 Pompe disease is a severe form of muscular dystrophy due

44 Pompe disease is a systemic metabolic disorder character

45 Infantile-onset Pompe disease is an autosomal recessive disorder caused

46 Pompe disease is an autosomal recessive lysosomal storag

47 Pompe disease is an autosomal recessive metabolic myopat

48 eased awareness of the clinical phenotype of Pompe disease is therefore warranted to expedite diagnos

49 timely and accurate diagnosis of late-onset Pompe disease likely will improve patient outcomes as ca

50 l efficacy of enzyme replacement therapy for Pompe disease may be improved.

51 Transgenic animal models of Pompe disease mirroring the patient phenotype have been

52 er pharmacokinetic evaluation and testing in Pompe disease models.

53 Data generated in both wild-type mice and a Pompe disease mouse model demonstrate that single-cycle,

54 ive vacuolar myopathy to identify late-onset Pompe disease often leads to false-negative results and

55 alteration of NMJ physiology contributes to Pompe disease pathology; we performed molecular, physiol

56 well as a detailed analysis of the CNS in a Pompe disease patient.

57 e an improved enzyme replacement therapy for Pompe disease patients.

58 Pompe disease (PD) is a metabolic myopathy due to acid a

59 ology of the neuromuscular junction (NMJ) in Pompe disease, reflecting disruption of neuronal and mus

60 ognized in a variety of disorders, including Pompe disease, the genetic deficiency of the glycogen-de

61 In 122 patients with Pompe disease, the relationship between cTnT, cardiac tr

62 l aspects of breathing in 2 animal models of Pompe disease--the Gaa(-/-) mouse and a transgenic line

63 broblasts from patients with infantile-onset Pompe disease to generate induced pluripotent stem (iPS)

64 on by AAV9 gene transfer in a mouse model of Pompe disease via ECG tracings and that intravenous deli

65 acement therapy with alglucosidase alpha for Pompe disease, we highlight these paradoxical effects.

66 n and enhanced efficacy from gene therapy in Pompe disease, which has implications for other lysosoma

67 Pompe disease, which results from mutations in the gene

68 lbuterol therapy in patients with late-onset Pompe disease who had been stable on ERT with no improve