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

1 can be learned from observing patients with familial hypercholesterolaemia.

2 and are licensed specifically for homozygous familial hypercholesterolaemia.

3 ls that included patients who had homozygous familial hypercholesterolaemia.

4 ein inhibitor, in patients with heterozygous familial hypercholesterolaemia.

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

6 familial hypercholesterolaemia or homozygous familial hypercholesterolaemia.

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

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

9 rcholesterolaemia will improve management of familial hypercholesterolaemia.

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

11 aluable drug in the management of homozygous familial hypercholesterolaemia.

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

13 aluable drug in the management of homozygous familial hypercholesterolaemia.

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

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

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

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

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

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

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

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

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

23 Mutations in apoB100 or in LDLR cause familial hypercholesterolaemia, an autosomal dominant di

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

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

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

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

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

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

30 , 2011, we enrolled adults with heterozygous familial hypercholesterolaemia and LDL-C concentrations

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

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

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

34 oved for the treatment of conditions such as familial hypercholesterolaemia and transthyretin amyloid

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

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

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

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

39 st identified and linked to the phenotype of familial hypercholesterolaemia approximately 15 years ag

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

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

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

43 Primary dyslipidaemias, including familial hypercholesterolaemia, are underdiagnosed genet

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

45 and -11, included patients with heterozygous familial hypercholesterolaemia, atherosclerotic CV disea

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

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

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

49 Undiagnosed familial hypercholesterolaemia carries a high risk of ca

50 luate a clinical case-finding algorithm, the familial hypercholesterolaemia case ascertainment tool (

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

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

53 Sensitivity analyses for LCR restricted to familial hypercholesterolaemia-coded patients (n=581) fo

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

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

56 Median age at familial hypercholesterolaemia diagnosis in adults with

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

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

59 In patients with heterozygous familial hypercholesterolaemia, evolocumab administered

60 good for the greatest number of people with familial hypercholesterolaemia (FH) across different cou

61 nd progenitor cells (HSPCs) of patients with familial hypercholesterolaemia (FH) and healthy normocho

62 Familial hypercholesterolaemia (FH) is a highly prevalen

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

64 Optimal care for familial hypercholesterolaemia (FH) requires patient-cen

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

66 g adults in Australia to detect heterozygous familial hypercholesterolaemia (FH).

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

68 , specifically focusing on Fabry Disease and Familial Hypercholesterolaemia (FH).

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

70 2011, we assembled a sample of patients with familial hypercholesterolaemia from three UK-based sourc

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

72 prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they c

73 Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic

74 Homozygous familial hypercholesterolaemia (HoFH) is a rare inherite

75 ent updates clinical guidance for homozygous familial hypercholesterolaemia (HoFH), explains the gene

76 we assessed the ability of FAMCAT to detect familial hypercholesterolaemia (ie, its discrimination)

77 rrently recommended methods for detection of familial hypercholesterolaemia in primary care.

78 The vast majority of individuals with familial hypercholesterolaemia in the general population

79 Familial hypercholesterolaemia is a common autosomal-dom

80 Familial hypercholesterolaemia is a common genetic disor

81 Homozygous familial hypercholesterolaemia is a genetic disorder cha

82 Homozygous familial hypercholesterolaemia is a rare, serious disord

83 Familial hypercholesterolaemia is associated with lifelo

84 Heterozygous familial hypercholesterolaemia is characterised by low c

85 Familial hypercholesterolaemia is common in individuals

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

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

88 Individuals with severe familial hypercholesterolaemia might benefit in particul

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

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

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

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

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

94 In patients with heterozygous familial hypercholesterolaemia or statin intolerance ant

95 ults; cascade testing has potential value in familial hypercholesterolaemia, or with family or person

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

97 lerodalcibep were evaluated in heterozygous familial hypercholesterolaemia patients requiring additi

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

99 Like familial hypercholesterolaemia patients, our familial hy

100 In patients with homozygous familial hypercholesterolaemia receiving stable backgrou

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

102 Patients with homozygous familial hypercholesterolaemia respond inadequately to e

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

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

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

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

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

108 In patients with heterozygous familial hypercholesterolaemia, treatment with anacetrap

109 reshold of more than 1 in 500 (prevalence of familial hypercholesterolaemia), we also assessed sensit

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

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

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

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

114 reduced LDL-C in subjects with heterozygous familial hypercholesterolaemia with a safety profile sim

115 FAMCAT identifies familial hypercholesterolaemia with greater accuracy tha

116 sting or high risk for ASVCD or heterozygous familial hypercholesterolaemia with LDL cholesterol conc

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

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

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