ライフサイエンスコーパス: familial hypercholesterolaemia

1 ein inhibitor, in patients with heterozygous familial hypercholesterolaemia.

2 of LDL cholesterol (LDL-C) in patients with familial hypercholesterolaemia.

3 familial hypercholesterolaemia or homozygous familial hypercholesterolaemia.

4 een in renal diseases, diabetes mellitus and familial hypercholesterolaemia.

5 mug and 100 mug eprotirome in patients with familial hypercholesterolaemia.

6 rcholesterolaemia will improve management of familial hypercholesterolaemia.

7 levels by 25-50% in patients with homozygous familial hypercholesterolaemia.

8 aluable drug in the management of homozygous familial hypercholesterolaemia.

9 er lower LDL-C in patients with heterozygous familial hypercholesterolaemia.

10 aluable drug in the management of homozygous familial hypercholesterolaemia.

11 ical utility of DNA testing in patients with familial hypercholesterolaemia.

12 and are licensed specifically for homozygous familial hypercholesterolaemia.

13 g, appear to have been largely addressed for familial hypercholesterolaemia.

14 een described as a 'phenocopy' of homozygous familial hypercholesterolaemia.

15 and valve is less common than in homozygous familial hypercholesterolaemia.

16 s with diabetes, end-stage renal failure and familial hypercholesterolaemia.

17 gene defect in the majority of patients with familial hypercholesterolaemia.

18 ls that included patients who had homozygous familial hypercholesterolaemia.

19 29 men and women with homozygous familial hypercholesterolaemia, aged 18 years or older,

20 FINDINGS: 29 men and women with homozygous familial hypercholesterolaemia, aged 18 years or older,

21 mutations found in patients with the disease familial hypercholesterolaemia alter residues that direc

22 ersen to confirm their effects in homozygous familial hypercholesterolaemia and clinical endpoint tri

23 DL-C reduction in patients with heterozygous familial hypercholesterolaemia and elevated LDL-C treate

24 unmet need for identifying individuals with familial hypercholesterolaemia and exploring the implica

25 iew, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at hi

26 still the treatment of choice in homozygous familial hypercholesterolaemia and in autosomal recessiv

27 implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant dia

28 , 2011, we enrolled adults with heterozygous familial hypercholesterolaemia and LDL-C concentrations

29 icacy of lipoprotein apheresis in homozygous familial hypercholesterolaemia and patients with coronar

30 will reduce LDL-C levels in both homozygous familial hypercholesterolaemia and severe heterozygous f

31 ly in all patients - particularly those with familial hypercholesterolaemia and those with statin int

32 , who met clinical criteria for heterozygous familial hypercholesterolaemia and were on stable lipid-

33 years or older, diagnosed with heterozygous familial hypercholesterolaemia, and had not reached targ

34 y utilising DNA testing for the diagnosis of familial hypercholesterolaemia, and subsequent cascade t

35 as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000

36 More than 1000 different molecular causes of familial hypercholesterolaemia are documented in the Uni

37 Psychological impacts of a diagnosis of familial hypercholesterolaemia are in line with the risk

38 Recent advances in its application to familial hypercholesterolaemia are reviewed to identify

39 rt the implementation of cascade testing for familial hypercholesterolaemia as being feasible and cos

40 n the management of patients with homozygous familial hypercholesterolaemia, autosomal recessive hype

41 at for patients with a clinical diagnosis of familial hypercholesterolaemia, but no identified rare m

42 We assessed the hypothesis that familial hypercholesterolaemia can also be caused by an

43 Undiagnosed familial hypercholesterolaemia carries a high risk of ca

44 model using hepatocytes from a patient with familial hypercholesterolaemia caused by loss-of-functio

45 emia, but no identified rare mutation in the familial hypercholesterolaemia-causing genes, LDL recept

46 characterisation of individuals with severe familial hypercholesterolaemia could improve resource us

47 of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical varia

48 so evidence that some patients with clinical familial hypercholesterolaemia do not have detectable de

49 umab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label

50 In patients with heterozygous familial hypercholesterolaemia, evolocumab administered

51 Typically, autosomal dominant familial hypercholesterolaemia (FH) is caused by mutatio

52 ptor are known to be the underlying cause of familial hypercholesterolaemia (FH), but mutations of th

53 ent of several metabolic diseases, including familial hypercholesterolaemia (FH).

54 hrough a recent guideline facilitated by the Familial Hypercholesterolaemia Foundation.

55 2011, we assembled a sample of patients with familial hypercholesterolaemia from three UK-based sourc

56 improving vascular function of children with familial hypercholesterolaemia has been demonstrated, bu

57 Familial hypercholesterolaemia is a common autosomal-dom

58 Familial hypercholesterolaemia is a common genetic disor

59 Homozygous familial hypercholesterolaemia is a genetic disorder cha

60 Homozygous familial hypercholesterolaemia is a rare, serious disord

61 Familial hypercholesterolaemia is associated with lifelo

62 Heterozygous familial hypercholesterolaemia is characterised by low c

63 Familial hypercholesterolaemia is common in individuals

64 familial hypercholesterolaemia patients, our familial hypercholesterolaemia liver chimeric mice devel

65 We go on to replace the missing LDLR in familial hypercholesterolaemia liver chimeric mice using

66 Individuals with severe familial hypercholesterolaemia might benefit in particul

67 firmed or clinical diagnosis of heterozygous familial hypercholesterolaemia, on optimum lipid-lowerin

68 patients (aged >/=12 years) with homozygous familial hypercholesterolaemia, on stable lipid-regulati

69 reated with darunavir, or who had homozygous familial hypercholesterolaemia or any condition causing

70 especially in those with severe heterozygous familial hypercholesterolaemia or homozygous familial hy

71 tients tend to have the most severe forms of familial hypercholesterolaemia or markedly elevated LDL

72 In patients with heterozygous familial hypercholesterolaemia or statin intolerance ant

73 he phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the

74 at it is equally acceptable for relatives of familial hypercholesterolaemia patients to be contacted

75 Like familial hypercholesterolaemia patients, our familial hy

76 In patients with homozygous familial hypercholesterolaemia receiving stable backgrou

77 SIL, protein S deficiency, haemophilia B and familial hypercholesterolaemia, respectively.

78 Patients with homozygous familial hypercholesterolaemia respond inadequately to e

79 otein receptor (LDLR), the many mutations in familial hypercholesterolaemia that map to the YWTD doma

80 lthough more than 90% of these clearly cause familial hypercholesterolaemia, the remainder require ca

81 n successful in reducing the risk for CHD in familial hypercholesterolaemia, there have been difficul

82 ypercholesterolaemia and severe heterozygous familial hypercholesterolaemia, thus reducing the risk f

83 nts with the strongest clinical suspicion of familial hypercholesterolaemia to more than 70-80%.

84 In patients with heterozygous familial hypercholesterolaemia, treatment with anacetrap

85 cholesterol concentrations in patients with familial hypercholesterolaemia when added to conventiona

86 ients aged 12 years or older with homozygous familial hypercholesterolaemia who were on stable LDL ch

87 e in patients with cardiovascular disease or familial hypercholesterolaemia whose LDL cholesterol lev

88 and wider availability of guidance to treat familial hypercholesterolaemia will improve management o

89 gene score distribution among patients with familial hypercholesterolaemia with no confirmed mutatio

90 LDL cholesterol in patients with homozygous familial hypercholesterolaemia, with or without apheresi

91 In a substantial proportion of patients with familial hypercholesterolaemia without a known mutation,