ライフサイエンスコーパス: Wilson's disease

1 with clinically and biochemically confirmed Wilson's disease.

2 initial or early treatment of patients with Wilson's disease.

3 strong evidence for monogenic inheritance of Wilson's disease.

4 rypsin deficiency, autoimmune hepatitis, and Wilson's disease.

5 of this lesion in tissues of a rat model of Wilson's disease.

6 or drugs that prevent copper accumulation in Wilson's disease.

7 constitute potential therapeutic agents for Wilson's disease.

8 in WNDP lead to a severe metabolic disorder, Wilson's disease.

9 and C virus infections, hemochromatosis, and Wilson's disease.

10 ease progression and therapeutic response in Wilson's disease.

11 Long Evans Cinnamon rats, an animal model of Wilson's disease.

12 could noninvasively assess liver function in Wilson's disease.

13 d to a severe multisystem disorder, known as Wilson's disease.

14 , 21 OLTs were performed in 17 patients with Wilson's disease.

15 ew our experience with OLT for patients with Wilson's disease.

16 Mutations in ATP7B lead to Wilson's disease, a severe disorder with neurological an

17 Wilson's disease, an autosomal disorder associated with

18 ns of copper in urine samples from mice with Wilson's disease and also tracing exogenously added copp

19 Both Wilson's disease and genetic hemochromatosis involve def

20 er toxicity contributes to neuronal death in Wilson's disease and has been speculatively linked to th

21 in the pathogenesis of Friedreich's ataxia, Wilson's disease and hereditary spastic paraplegia.

22 ved in liver carcinogenesis in patients with Wilson's disease and in other human cancers.

23 ossible mechanism of action in arthritis and Wilson's disease and may also underlie complications ass

24 uced by intracellular copper accumulation in Wilson's disease and other copper toxicosis disorders an

25 rrhosis, biliary cirrhosis, hemochromatosis, Wilson's disease) and ICC (biliary cirrhosis, cholangiti

26 um (calcifications, Fahr's disease), copper (Wilson's disease) and manganese (hepatic encephalopathy,

27 . anaemia, haemochromatosis, Menkes disease, Wilson's disease), and neurodegenerative diseases (i.e.

28 the pathogenesis of genetic hemochromatosis, Wilson's disease, and alpha1-antitrypsin deficiency grow

29 Cu transport rates during copper deficiency, Wilson's disease, and other copper toxicosis syndromes.

30 ailable to confirm the clinical diagnosis of Wilson's disease, and results from biochemical and genet

31 siological clusters isolated from TM-treated Wilson's disease animal models.

32 Clinical management of Wilson's disease, autoimmune liver disease, and chronic

33 Wilson's disease can present with hepatic and neurologic

34 Therapy of Wilson's disease continues to evolve.

35 transplantation for hepatic complications of Wilson's disease cures and corrects the underlying metab

36 We report the first cases with Wilson's disease due to segmental uniparental isodisomy

37 opper metabolism, namely Menkes syndrome and Wilson's disease, encode P-type ATPases that are more si

38 es of copper metabolism, Menkes syndrome and Wilson's disease, encode P-type ATPases that are more si

39 ies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of c

40 The discovery of the Wilson's disease gene has opened up a new molecular diag

41 le patients (hepatitis B; hepatitis B and D; Wilson's disease; hepatitis B, D, and C; and 3 with hepa

42 We determined the genetic prevalence of Wilson's disease in the United Kingdom by sequencing the

43 hree ATP7B mutations and three families with Wilson's disease in two consecutive generations.

44 Eleven patients had fulminant Wilson's disease; in six patients the presentation was c

45 Wilson's disease invariably results in severe disability

46 Wilson's disease is a genetic disorder in which copper a

47 Wilson's disease is an inherited disorder of copper meta

48 Early diagnosis of Wilson's disease is crucial to ensure that patients can

49 rogressive hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabo

50 vans Cinnamon (LEC) rat, an animal model for Wilson's disease, is an inbred mutant strain, which beca

51 etic defects of copper distribution, such as Wilson's disease, lead to severe pathologies, including

52 the number of clinically diagnosed cases of Wilson's disease may be due to both reduced penetrance o

53 and genetic prevalence studies suggest that Wilson's disease might be much more common than previous

54 efects in copper metabolism cause Menkes and Wilson's disease, myeloneuropathy, and cardiovascular di

55 Furthermore, Wilson's disease needs to be differentiated from other c

56 er than the typically reported prevalence of Wilson's disease of 1:30 000 (P = 0.00093).

57 It is universally agreed that pregnant Wilson's disease patients should remain on anticopper th

58 utations in genes other than ATP7B causing a Wilson's disease phenotype is therefore very low.

59 ies were reduced in the Atp7b mouse model of Wilson's disease prior to liver damage, and were partial

60 The association of ClC-4 and the Wilson's disease protein (ATP7B) was determined by co-im

61 copper chaperone Hah1 delivers Cu(+) to the Wilson's Disease Protein (WDP) via weak and dynamic prot

62 the copper-transporting ATPase ATP7B or the Wilson's disease protein (WNDP) belongs to the large fam

63 The Wilson's disease protein (WNDP) is a copper-transporting

64 Wilson's disease protein (WNDP) is a copper-transporting

65 The mutations in the ATPase ATP7B, the Wilson's disease protein (WNDP), lead to intracellular a

66 phorylation of a key copper transporter, the Wilson's disease protein (WNDP).

67 Cu-ATPase ATP7B (Wilson's disease protein) transports copper into the tra

68 intracellular mislocalization of ATP7B (the Wilson's disease protein, WNDP).

69 gene encoding a copper-transporting ATPase (Wilson's disease protein, WNDP).

70 e, present in 45% of patients with fulminant Wilson's disease, resolved post-OLT with supportive care

71 Wilson's disease results from mutations in the P-type Cu

72 taxias, myorhythmia, isolated tongue tremor, Wilson's disease, slow orthostatic tremor, peripheral tr

73 For genetic hemochromatosis and Wilson's disease, studies focused on the function of the

74 tion or share biochemical abnormalities with Wilson's disease, such as reduced serum ceruloplasmin co

75 f these observations for conditions, such as Wilson's disease, that can involve raised Cu(2+) levels

76 f non-HFE hemochromatosis were published and Wilson's disease was described in individuals of 60 year

77 The copper metabolism disorder Wilson's disease was first defined in 1912.

78 Wilson's disease (WD) is an autosomal recessive disorder

79 Wilson's disease (WD) is caused by mutations in a P-type

80 ating methylation status and liver injury in Wilson's disease (WD) through the inhibition of S-adenos

81 In Wilson's disease (WD), this function is disrupted due to

82 pper excretion result in copper overload and Wilson's disease (WD).

83 been reported as mutations in patients with Wilson's disease were included in the analysis (Class 2

84 Neurologic features of Wilson's disease were not prominent preoperatively and d

85 l overdose, 2 idiosyncratic drug reaction, 3 Wilson's disease) were available.

86 on (OLT) can be lifesaving for patients with Wilson's disease who present with fulminant liver failur

87 We enrolled patients (>/=18 years) with Wilson's disease who were untreated or had received no m

88 g-Evans Cinnamon (LEC) rats, which reproduce Wilson's disease with copper toxicosis, and their normal

89 be a promising new therapeutic approach for Wilson's disease, with a unique mode of action.

90 Wilson's disease (WND) is an inherited disorder of coppe