ライフサイエンスコーパス: Fabry disease

1 with alpha-galactosidase A deficiency (human Fabry disease).

2 (alpha-galactosidase, deficient in lysosomal Fabry disease).

3 (rh-alpha GalA) replacement in patients with Fabry disease.

4 novel molecular mechanism causing classical Fabry disease.

5 ACTT (del4), in unrelated men with classical Fabry disease.

6 on thrombotic complications in patients with Fabry disease.

7 present in 6 unrelated patients with cardiac Fabry disease.

8 activity, leading to a cardiac phenotype of Fabry disease.

9 se 3 trial of enzyme-replacement therapy for Fabry disease.

10 n of hematopoietic cells in a mouse model of Fabry disease.

11 RT in correcting pre-existing pathologies in Fabry disease.

12 ffects of preselection in the mouse model of Fabry disease.

13 and have widespread therapeutic efficacy in Fabry disease.

14 n in an alpha-gal A-deficient mouse model of Fabry disease.

15 fe and biochemically active in patients with Fabry disease.

16 f enzyme-replacement trials in patients with Fabry disease.

17 abnormalities, facilitate identification of Fabry disease.

18 se A (alpha-gal A) knockout mice, a model of Fabry disease.

19 imited primary nervous system involvement in Fabry disease.

20 tial role in the management of patients with Fabry disease.

21 ss of therapeutic endeavors in patients with Fabry disease.

22 cess in the mutant mice and in patients with Fabry disease.

23 ing therapeutic strategies for patients with Fabry disease.

24 (TRPML1-F408), Niemann-Pick type A (NPA) and Fabry disease.

25 FOS-MSSI scores in paediatric patients with Fabry disease.

26 ivity of androgen receptor (AR) signaling in Fabry disease.

27 y hypertrophic phenotype in a mouse model of Fabry disease.

28 l for study of enteropathy and neuropathy in Fabry disease.

29 ferent etiology, such as amyloid or Anderson-Fabry disease.

30 inically relevant agalA mutations leading to Fabry disease.

31 A) mutations determining clinically relevant Fabry disease.

32 alogues are promising urinary biomarkers for Fabry disease.

33 provide insight into the pathophysiology of Fabry disease.

34 currently in clinical trial for treatment of Fabry disease.

35 history of CV complications in patients with Fabry disease.

36 in (BH4) plays a role in the pathogenesis of Fabry disease.

37 tment of lysosomal storage disorders such as Fabry disease.

38 of mutations that lead to the development of Fabry disease.

39 uscular administration in the mouse model of Fabry disease.

40 mediate the endothelial dysfunction seen in Fabry disease.

41 pared with placebo in patients with advanced Fabry disease.

42 ly contributes to morbidity in patients with Fabry disease.

43 h isolated arterial hypertension (-14+/-6%), Fabry disease (-12+/-5%), Friedreich ataxia (-16+/-2%),

44 Fabry disease, a genetic disorder caused by deficiency o

45 n human alpha-GAL lead to the development of Fabry disease, a lysosomal storage disorder characterize

46 Anderson-Fabry disease (AFD) is a rare but underdiagnosed intrace

47 Fabry disease (alpha-galactosidase A deficiency) is a ra

48 Fabry disease (alpha-galactosidase A deficiency) is an X

49 sult in premature mortality in patients with Fabry disease, an X-linked deficiency of alpha-galactosi

50 e, alpha-galactosidase A (alpha-GalA), cause Fabry disease, an X-linked recessive inborn error of gly

51 Twenty-five patients with Fabry disease and 25 control subjects participated in th

52 eports have suggested an association between Fabry disease and airway obstruction, this has not been

53 eceptor blocker therapy on patients who have Fabry disease and also received enzyme replacement thera

54 in roughly half of school-aged children with Fabry disease and are well-recognised as a valuable tool

55 ient gene-therapy approach for patients with Fabry disease and is indicative of its potential for the

56 ut their use is challenging in patients with Fabry disease and low or low-normal baseline systemic BP

57 whom have extensive clinical experience with Fabry disease and lysosomal storage disorders and repres

58 s study showed that BH4 deficiency occurs in Fabry disease and may contribute to the pathogenesis of

59 poietic stem/progenitor cell gene therapy of Fabry disease and other disorders.

60 transfer may be useful for the treatment of Fabry disease and possibly other metabolic disorders.

61 elp to understand the mechanism of stroke in Fabry disease and provide indicators (or markers) of eff

62 paper reviews the key signs and symptoms of Fabry disease and provides expert recommendations for di

63 ive loss of kidney function in patients with Fabry disease and severe chronic kidney disease marked b

64 idelines for the monitoring and treatment of Fabry disease and studies on the effects of intervention

65 e abnormal AR pathway in the pathogenesis of Fabry disease and suggest blocking AR signaling as a nov

66 or developing early severe manifestations of Fabry disease and who should be further evaluated and cl

67 eficial in the subgroup of patients who have Fabry disease and whose kidney function continues to dec

68 nts with CA, isolated arterial hypertension, Fabry disease, and Friedreich ataxia (n=25 per group) we

69 is is the first time that lyso-Gb(3)-related Fabry disease biomarkers are detected in urine.

70 vered seven novel urinary lyso-Gb(3)-related Fabry disease biomarkers with mass-to-charge ratios (m/z

71 ntly in alpha-gal A knockout mouse models of Fabry disease by using a variety of viral vectors.

72 Ocular signs of Fabry disease can be seen in the first decade of life.

73 nical trials for another metabolic disorder, Fabry disease) can also chaperone human alpha-NAGAL in S

74 o human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to vi

75 e found higher concentrations for males with Fabry disease compared to females.

76 al studies of enzyme-replacement therapy for Fabry disease (deficient alpha-galactosidase A [alpha-Ga

77 ns of alpha-galactosidase A in patients with Fabry disease demonstrated the safety and efficacy of th

78 supply between 2009 and 2012, patients with Fabry disease either were treated with reduced doses or

79 Cardiac arrhythmias are common in Fabry disease (FD) and may occur in prehypertrophic card

80 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(alpha-galactosidase A g

81 Fabry disease (FD) is a progressive multisystemic disord

82 Fabry disease (FD) is an X-linked disorder of lysosomal

83 Moreover, LacCer levels were not affected by Fabry disease for both males and females.

84 y transplant recipients with ESRD because of Fabry disease from 1987 to 2007 were identified.

85 n have shown promise in the murine analog of Fabry disease, gene therapy holds a strong potential for

86 zyme replacement therapy, men with classical Fabry disease had a history of more events than men with

87 Men and women with classical Fabry disease had higher event rate than did those with

88 Furthermore, men with classical Fabry disease had lower eGFR, higher left ventricular ma

89 e; however, the vasculopathy associated with Fabry disease has not been extensively studied.

90 cognised as a valuable tool for diagnosis of Fabry disease in children; they also may help identify p

91 lly treatable cause of hypertrophy, Anderson-Fabry disease, in a HCM referral population.

92 acological chaperone therapy for Gaucher and Fabry disease, in which small molecules bind mutant enzy

93 Enzyme replacement therapy in all males with Fabry disease (including those with end-stage renal dise

94 The structure of human alpha-GAL brings Fabry disease into the realm of molecular diseases, wher

95 Fabry disease is a compelling target for gene therapy as

96 Fabry disease is a lipid storage disorder resulting from

97 Fabry disease is a lysosomal storage disorder caused by

98 Fabry disease is a lysosomal storage disorder caused by

99 Fabry disease is a lysosomal storage disorder caused by

100 Fabry disease is a lysosomal storage disorder caused by

101 Fabry disease is a lysosomal storage disorder caused by

102 Fabry disease is a lysosomal storage disorder that resul

103 Fabry disease is a metabolic disorder without a specific

104 Fabry disease is a multisystemic, X-linked lysosomal sto

105 Fabry disease is a rare but important cause of end-stage

106 Fabry disease is an inborn error of glycosphingolipid ca

107 Fabry disease is an X-linked inborn error of metabolism

108 Fabry disease is an X-linked inherited loss of alpha-gal

109 Fabry disease is an X-linked inherited metabolic disorde

110 Fabry disease is an X-linked lysosomal deficiency of alp

111 Fabry disease is an X-linked lysosomal storage disease a

112 Fabry disease is an X-linked lysosomal storage disease c

113 Fabry disease is an X-linked lysosomal storage disorder

114 Fabry disease is an X-linked lysosomal storage disorder

115 Fabry disease is an X-linked lysosomal storage disorder

116 Fabry disease is an X-linked metabolic disorder caused b

117 Fabry disease is an X-linked metabolic disorder due to a

118 Fabry disease is an X-linked recessive disorder in which

119 Fabry disease is an X-linked recessive disorder resultin

120 Fabry disease is an X-linked recessive inborn metabolic

121 Fabry disease is an X-linked recessive lysosomal storage

122 Fabry disease is caused by deficient activity of alpha-g

123 Fabry disease is caused by deficient activity of lysosom

124 ent therapy on renal morphologic features in Fabry disease is largely unknown.

125 Elucidation of the pathogenesis of Fabry disease is therefore crucial to developing new tre

126 ase-specific therapy currently available for Fabry disease--is safe and can reverse substrate storage

127 Fabry disease leads to renal, cardiac, and cerebrovascul

128 These data suggest that Fabry disease may be amenable to substrate deprivation t

129 bone marrow cells derived from patients with Fabry disease may have utility for phenotypic correction

130 pe but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic card

131 More than 500 Fabry disease mutants have been identified, the majority

132 vels than any of the patients with classical Fabry disease (n=55).

133 The earliest clinical signs of Fabry disease often manifest as dermatologic disturbance

134 Fabry disease, OMIM 301500, is a progressive multisystem

135 ne concentrations than men with nonclassical Fabry disease or women with either phenotype (P<0.001).

136 h those with isolated arterial hypertension, Fabry disease, or control subjects (all P<0.0125).

137 d biomarkers in the plasma of untreated male Fabry disease patients using a mass spectrometry metabol

138 sed for detection and high-risk screening of Fabry disease patients, novel urinary Gb3-related isofor

139 the detection, monitoring, and follow-up of Fabry disease patients.

140 lysosomal storage diseases: Gaucher disease, Fabry disease, Pompe disease and the mucopolysaccharidos

141 ts of purified alpha-gal A, 10 patients with Fabry disease received a single i.v. infusion of one of

142 here are currently two treatment options for Fabry disease, recombinant enzyme replacement therapy (a

143 obstruction commonly occurs in patients with Fabry disease regardless of smoking history, and it incr

144 transplantation outcomes among patients with Fabry disease remain controversial.

145 o the lipid metabolism disorders Gaucher and Fabry disease, respectively.

146 Fabry disease results from deficient alpha-galactosidase

147 ns are based on reviews of the literature on Fabry disease, results of recent clinical trials, and ex

148 Anderson-Fabry disease should be considered in all cases of unexp

149 All males and female carriers affected with Fabry disease should be followed closely, regardless of

150 All patients with Fabry disease should be monitored for possible CV risk f

151 To describe the natural course of Fabry disease stratified by sex and phenotype, we retros

152 The clinical consequences of Fabry disease suggest that vascular thrombosis may play

153 of its substrate, which ultimately leads to Fabry disease symptoms.

154 male patients, aged 18 years or older, with Fabry disease that was confirmed by alpha-gal A assay.

155 er understand the underlying pathogenesis of Fabry disease, the caveolar lipid content of primary cul

156 As a point mutation in alpha-GAL can lead to Fabry disease, we have catalogued and plotted the locati

157 affected male and female heterozygotes with Fabry disease were 12.6 +/- 3.7 and 1.1 +/- 0.7 microg/m

158 with either phenotype; women with classical Fabry disease were more likely to develop complications

159 A group of patients with Fabry disease were treated with antiproteinuric therapy,

160 agalsidase-beta in 2009, many patients with Fabry disease were treated with lower doses or were swit

161 r glycosphingolipid accumulation in Anderson-Fabry disease, whereas high native T1 values are observe

162 ase A-deficient (alphaGalA(-/-)) mice (human Fabry disease), which accumulate isoglobosides and globo

163 lead to a lysosomal storage disorder such as Fabry disease, which is caused by a deficiency in alpha-

164 o determine whether adult male patients with Fabry disease who demonstrate a continuing decline in re

165 A total of 89 adult patients with Fabry disease who had received agalsidase-beta (1.0 mg/k

166 A total of 105 adult patients with Fabry disease who had received agalsidase-beta (1.0 mg/k

167 licing has been identified in a patient with Fabry disease who has the cardiac variant phenotype.

168 Eleven (27%) of 41 adult male patients with Fabry disease who participated in long-term agalsidase a

169 ng loss in 109 male and female patients with Fabry disease who were referred to and seen at the Clini

170 hich were known to cause the classic type of Fabry disease with specific symptoms and a high risk for

171 ic alteration of the nitric oxide pathway in Fabry disease, with critical protein nitration that is r

172 ased resting regional cerebral blood flow in Fabry disease without evidence of occlusive vasculopathy