ライフサイエンスコーパス: Fabry disease

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

2 ty Score Index (a measure of the severity of Fabry disease).

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

4 currently in clinical trial for treatment of Fabry disease.

5 history of CV complications in patients with Fabry disease.

6 tment of lysosomal storage disorders such as Fabry disease.

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

8 uscular administration in the mouse model of Fabry disease.

9 reproducibility compared with cardiac MRI in Fabry disease.

10 mediate the endothelial dysfunction seen in Fabry disease.

11 pared with placebo in patients with advanced Fabry disease.

12 ly contributes to morbidity in patients with Fabry disease.

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

14 novel molecular mechanism causing classical Fabry disease.

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

16 f cardiac MRI findings in men and women with Fabry disease.

17 on thrombotic complications in patients with Fabry disease.

18 present in 6 unrelated patients with cardiac Fabry disease.

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

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

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

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

23 and have widespread therapeutic efficacy in Fabry disease.

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

25 fe and biochemically active in patients with Fabry disease.

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

27 abnormalities, facilitate identification of Fabry disease.

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

29 imited primary nervous system involvement in Fabry disease.

30 ss of MRI in hypertrophic cardiomyopathy and Fabry disease.

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

32 ss of therapeutic endeavors in patients with Fabry disease.

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

34 ing therapeutic strategies for patients with Fabry disease.

35 plain clinical manifestations of non-classic Fabry disease.

36 me and chaperone therapies are used to treat Fabry disease.

37 ls (iPSCs) derived from two individuals with Fabry disease.

38 alactosidase A (GLA), an enzyme deficient in Fabry disease.

39 stemic and cerebrovascular manifestations of Fabry disease.

40 y on cardiac MRI parameters in patients with Fabry disease.

41 ptoms of autonomic dysfunction are common in Fabry disease.

42 ement for patients with a known diagnosis of Fabry disease.

43 for adverse cardiac outcome in patients with Fabry disease.

44 tial to be an effective one-time therapy for Fabry disease.

45 he diagnosis and monitoring of patients with Fabry disease.

46 ctosidase enzymes as potential treatment for Fabry disease.

47 ors may contribute, especially in nonclassic Fabry disease.

48 leading cause of mortality in patients with Fabry disease.

49 lipids and develop cardiorenal phenotypes of Fabry disease.

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

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

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

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

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

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

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

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

58 inically relevant agalA mutations leading to Fabry disease.

59 A) mutations determining clinically relevant Fabry disease.

60 alogues are promising urinary biomarkers for Fabry disease.

61 provide insight into the pathophysiology of Fabry disease.

62 This included a yield of 1% for Fabry disease, 0.3% for familial amyloidosis, 0.15% for

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

64 ges of kidney biopsies from 56 patients with Fabry disease, 15 with type 2 diabetes, 10 with minimal

65 f 35 patients] vs 69% [24 of 35]; P = .008), Fabry disease (93% [13 of 14 patients] vs 50% [seven of

66 Fabry disease, a genetic disorder caused by deficiency o

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

68 Fabry disease, a lysosomal storage disorder resulting fr

69 Anderson-Fabry disease (AFD) is a lysosomal storage disorder char

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

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

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

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

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

75 eatment-naive males and females with classic Fabry disease and 11 normal individuals.

76 Fourteen consecutive patients with Fabry disease and 14 healthy control participants were e

77 evels in 31 patients with genetically proven Fabry disease and 19 age-matched healthy control subject

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

79 ge (% male) was 44.1 (45%) for patients with Fabry disease and 37.4 (53%) for the healthy control gro

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

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

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

83 by the Czech national screening program for Fabry disease and by further screening in an additional

84 nosed rare disease, specifically focusing on Fabry Disease and Familial Hypercholesterolaemia (FH).

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

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

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

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

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

90 treatment, in the case of datasets for both Fabry disease and Pompe disease, in line with previous f

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

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

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

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

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

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

97 x (MSSI) was used to measure the severity of Fabry disease and the Composite Autonomic Symptom Scale

98 als as a model to study disease processes in Fabry disease and the therapeutic potential of GLA modRN

99 to white light stimulation in patients with Fabry disease and their association with the severity of

100 f systemic mRNA therapy for the treatment of Fabry disease and this approach may be useful for other

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

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

103 pain, chemotherapy-induced neuropathic pain, Fabry disease, and chronic pain in general.

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

105 valuated the pattern of DTI abnormalities in Fabry disease, and their correlations with cognitive imp

106 Current therapies for Fabry disease are based on reversing intracellular accum

107 The cardiac manifestations of Fabry disease are the leading cause of death, but risk s

108 Fabry disease arises from the lack or dysfunction of the

109 prognosticator of adverse renal outcomes in Fabry disease-as well as with decreasing GFR.

110 Adults (>= 18 years) with Fabry disease attending regular follow-up appointments a

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

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

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

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

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

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

117 Although not specific for a diagnosis of Fabry disease, certain cardiac imaging findings may be h

118 pupil dilation (P = 0.048) in patients with Fabry disease compared to control subjects.

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

120 f gastrointestinal symptoms in patients with Fabry disease compared to the general population, and to

121 In patients with Fabry disease, compared to healthy controls the mean ave

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

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

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

125 Keywords: Fabry Disease, Enzyme Replacement Therapy (ERT), Cardiac

126 Conclusion In patients with Fabry disease, enzyme replacement therapy was associated

127 f microstructural white matter disruption in Fabry disease, extending beyond white matter hyperintens

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

129 It is unclear which patients with Fabry disease (FD) are at risk for progression of white

130 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(alpha-galactosidase A g

131 The diagnosis of Fabry disease (FD) has relevant implications related to

132 Fabry disease (FD) is a progressive multisystemic disord

133 Fabry disease (FD) is a rare disorder resulting from a g

134 Fabry disease (FD) is a rare lysosomal storage disorder

135 Fabry disease (FD) is a rare X-linked inherited lysosoma

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

137 Fabry disease (FD) is an X-linked lysosomal storage dise

138 Fabry disease (FD) is an X-linked lysosomal storage diso

139 ot shown benefit in organ damage reversal in Fabry disease (FD), but biomarkers could help risk strat

140 ance can demonstrate myocardial processes in Fabry disease (FD), such as low native T1 (sphingolipid

141 of cardiovascular outcomes in patients with Fabry disease (FD).

142 n and women with classical and non-classical Fabry disease (FD).

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

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

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

146 of 55 males (mean age 27 years) with classic Fabry disease genotype and/or phenotype, we performed un

147 Thus, in females with Fabry disease GL3 accumulation in F+ podocytes progresse

148 ausea (23%) were significantly higher in the Fabry disease group compared to the general population.

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

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

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

152 rmal appearing white matter in patients with Fabry disease had reduced fractional anisotropy [0.422 (

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

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

155 may be highly suggestive of the diagnosis of Fabry disease in previously undiagnosed patients or card

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

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

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

159 cardiac outcome for individual patients with Fabry disease, including men and women, which could easi

160 e in affected podocytes (F+) in females with Fabry disease independent of mosaicism leading to import

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

162 Fabry disease is a compelling target for gene therapy as

163 Fabry disease is a lipid storage disorder resulting from

164 Fabry disease is a lysosomal storage disease with a vari

165 Fabry disease is a lysosomal storage disorder caused by

166 Fabry disease is a lysosomal storage disorder caused by

167 Fabry disease is a lysosomal storage disorder caused by

168 Fabry disease is a lysosomal storage disorder caused by

169 Fabry disease is a lysosomal storage disorder that resul

170 Fabry disease is a metabolic disorder without a specific

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

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

173 Fabry disease is a rare disorder caused by variations in

174 Fabry disease is a rare X-linked lysosomal storage disor

175 Fabry disease is a rare X-linked lysosomal storage disor

176 Fabry disease is an inborn error of glycosphingolipid ca

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

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

179 Fabry disease is an X-linked inherited metabolic disorde

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

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

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

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

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

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

186 Fabry disease is an X-linked lysosomal storage disorder

187 Fabry disease is an X-linked lysosomal storage disorder

188 Fabry disease is an X-linked lysosomal storage disorder

189 Fabry disease is an X-linked lysosomal storage disorder

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

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

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

193 Fabry disease is an X-linked recessive disorder resultin

194 Fabry disease is an X-linked recessive inborn metabolic

195 Fabry disease is an X-linked recessive lysosomal storage

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

197 Fabry disease is caused by deficient activity of lysosom

198 Classic Fabry disease is caused by GLA mutations that result in

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

200 To a degree, Fabry disease is manageable via enzyme replacement thera

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

202 ponse to enzyme replacement therapy (ERT) in Fabry disease is typically assessed by measuring left ve

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

204 Fabry disease leads to renal, cardiac, and cerebrovascul

205 In prehypertrophic Fabry disease, low myocardial T1 values, reflecting sphi

206 In prehypertrophic Fabry disease, low T1 values correlate with early electr

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

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

209 d 11 studies of a total of 445 patients with Fabry disease (mean age +/- SD, 41 years +/- 11; 277 mal

210 Seventy-eight patients with Fabry disease (mean age, 46 years +/- 14 [standard devia

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

212 s with several other classic and non-classic Fabry disease missense alpha-galactosidase A variants.

213 females can suffer serious complications of Fabry disease, most studies are limited to males to avoi

214 ted glycoforms of alpha-galactosidase A in a Fabry disease mouse model, and find that an alpha2-3 sia

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

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

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

218 Fabry disease, OMIM 301500, is a progressive multisystem

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

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

221 Thirty-five adults with Fabry disease participated (mean age = 48 years; 54% wom

222 While Fabry disease pathogenesis has been mostly attributed to

223 idase A expressing cells as a contributor to Fabry disease pathogenesis.

224 disease, together with the colocalization of Fabry disease pathology in areas relevant for AD pathoge

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

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

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

228 In non-classic Fabry disease, patients have some preserved alpha-galact

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

230 S) were significantly related to severity of Fabry disease (r = 0.47), the SF-36v2 physical component

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

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

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

234 transplantation outcomes among patients with Fabry disease remain controversial.

235 Low native T1 in Fabry disease represents sphingolipid accumulation; late

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

237 Fabry disease results from a deficiency of the lysosomal

238 Fabry disease results from deficient alpha-galactosidase

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

240 ising quantitative biomarkers for monitoring Fabry disease severity and progression.

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

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

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

244 Fabry disease stems from a deficiency of alpha-galactosi

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

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

247 itional patients with potential diagnosis of Fabry disease, suggesting a potential 50% increase in di

248 of gastrointestinal symptoms in adults with Fabry disease suggests routine gastrointestinal screenin

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

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

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

252 In males with classic Fabry disease, the processes leading to the frequent out

253 y consisted of 200 consecutive patients with Fabry disease undergoing clinical cardiac magnetic reson

254 r pathology is a common CNS manifestation of Fabry disease, visualized as white matter hyperintensiti

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

256 Using a rat model of Fabry disease, we provide an improved understanding of t

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

258 dult males with Type 1 (classical) phenotype Fabry disease were infused with autologous lentivirus-tr

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

260 However, diffusion abnormalities in Fabry disease were not restricted to lesional tissue; co

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

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

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

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

265 ry function is demonstrated in patients with Fabry disease, which is associated with the severity of

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

267 cement can be used to identify patients with Fabry disease who are at high risk of adverse cardiac ev

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

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

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

271 Consecutive women and men with gene-positive Fabry disease who had undergone cardiac MRI at a single

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

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

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

275 esults provide proof of concept for treating Fabry disease with EXG110.

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

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

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