ライフサイエンスコーパス: Fabry

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

2 Fabry disease (FD) is a progressive multisystemic disord

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

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

5 Fabry disease is a lysosomal storage disease with a vari

6 Fabry disease is a lysosomal storage disorder caused by

7 Fabry disease is a lysosomal storage disorder caused by

8 Fabry disease is a lysosomal storage disorder caused by

9 Fabry disease is a lysosomal storage disorder that resul

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

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

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

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

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

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

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

17 Fabry disease is an X-linked lysosomal storage disorder

18 Fabry disease is an X-linked lysosomal storage disorder

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

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

21 Fabry disease is caused by deficient activity of lysosom

22 Fabry disease leads to renal, cardiac, and cerebrovascul

23 Fabry disease, a genetic disorder caused by deficiency o

24 Fabry disease, OMIM 301500, is a progressive multisystem

25 Fabry males had higher excretion levels compared to fema

26 Fabry myocardial phenotype development is different at d

27 Fabry patients were then compared with a 10:1 matched co

28 Fabry rat eyes accumulated substrates of alpha-galactosi

29 Fabry's disease is an X-linked lysosomal storage disorde

30 Fabry's disease, an X-linked disorder of lysosomal alpha

31 urinary excretion levels in samples from 164 Fabry patients and 94 healthy controls.

32 amples were studied from 34 untreated and 33 Fabry males treated by enzyme replacement therapy (ERT)

33 nances to be assigned to the m = 3 and m = 4 Fabry-Perot modes.

34 diac magnetic resonance were performed in 44 Fabry patients without left ventricular hypertrophy (35.

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

36 osttreatment endomyocardial biopsies from 58 Fabry patients enrolled in a 5-month, phase 3, double-bl

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

38 es, to evaluate their levels in plasma of 74 Fabry patients and 41 healthy controls and to correlate

39 ardiac-related death) were analyzed in 2,869 Fabry Registry patients during the natural history perio

40 We developed and characterized a Fabry-Perot (FP) sensor module based micro gas chromatog

41 ly modulated using electric fields to form a Fabry-Perot cavity.

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

43 able for 30 months of monitored therapy in a Fabry male.

44 ic wave (SAW)-based device that integrates a Fabry-Perot type acoustic resonator into a microfluidic

45 The origin of first mechanism is a Fabry-Perot like interference and that of the second mec

46 tical resonators, and by the appearance of a Fabry-Perot interference pattern for junctions close to

47 d also the more deterministic influence of a Fabry-Perot microresonator.

48 electroabsorption modulators are based on a Fabry-Perot-resonator geometry that allows modulation de

49 /reversible immobilization of enzymes onto a Fabry-Perot thin film.

50 k with sequences of up to 16 images, using a Fabry-Perot cavity to generate a pulse train that can be

51 combination of a laser frequency comb with a Fabry-Perot filtering cavity has been suggested as a pro

52 using a stripline structure combined with a Fabry-Perot microwave resonator.

53 pared with placebo in patients with advanced Fabry disease.

54 asuring area counts for each analogue in all Fabry patients.

55 Five-year graft survival was superior among Fabry patients (74%) compared with those with other caus

56 Five-year patient survival among Fabry patients (81%) was similar to those with other cau

57 urinary analogue distributions varied among Fabry patients.

58 ss of MRI in hypertrophic cardiomyopathy and Fabry disease.

59 eads to a significant delay in diagnosis and Fabry-specific therapy.

60 Organ function and Fabry-related symptoms remained stable in the regular-do

61 cardiac, renal, and neurologic function; and Fabry-related symptoms (neuropathic pain, hypohidrosis,

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

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

64 The multimode nature of the membrane and Fabry-Perot resonators will allow multimode entanglement

65 Results show that while microrings and Fabry-Perot cavities can outperform plasmonic cavities a

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

67 safe, but microalbuminuria may progress and Fabry-related symptoms may deteriorate.

68 manifestations such as type I Gaucher's and Fabry's disease.

69 anoribbons show phase-coherent transport and Fabry-Perot interference, suggesting minimal defects and

70 xamined by fluorescein angiography in WT and Fabry rats.

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

72 Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence

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

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

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

76 tment of lysosomal storage disorders such as Fabry disease.

77 Our device is inspired by an asymmetric Fabry-Perot resonator, with pixels comprising a scatteri

78 In fiber based Fabry-Perot Cavities (FFPCs), limited spatial mode match

79 A ZIF-8 thin film-based Fabry-Perot device has been fabricated as a selective se

80 Because Fabry rats recapitulate many ocular phenotypes observed

81 We argue that both Fabry-Perot-like and localized plasmon modes play an imp

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

83 at the transmission spectrum is dominated by Fabry-Perot (F-P) waveguide modes and plasmonic modes.

84 Gene defects causing Fabry's disease (GLA) and Pompe's disease (GAA) were not

85 In classic Fabry patients, accelerated coronary atherosclerosis and

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

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

88 s not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant o

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

90 ith lyso-Gb3>/=2.7 ng/mL suggested classical Fabry mutations in most of the patients (93%).

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

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

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

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

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

96 n (ceroid lipofuscinosis, neuronal 2, CLN2), Fabry, Farber, Niemann-Pick disease type A, Sanfilippo t

97 An optical mode of a compact Fabry-Perot resonator detects these modes' motion with a

98 A concave Fabry-Perot cavity at the distal end of an optical fibre

99 d absorption is a result of mutually coupled Fabry-Perot resonators represented by each graphene-quar

100 enotypes in alpha-galactosidase A-deficient (Fabry) rats and hypothesized that these rats would manif

101 As-designed Fabry-Perot (F-P) sensors exhibit nearly synchronous pre

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

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

104 In our largest European Fabry cohort, we investigated whether a biomarker, speci

105 Upon optical excitation, Fabry-Perot lasing occurs in CsPbBr3 nanowires with an o

106 netic field regime, the resistance exhibited Fabry-Perot (FP) resonances due to np'n(pn'p) cavities f

107 Optical fiber extrinsic Fabry-Perot interferometry (EFPI) was investigated as a

108 4 was also decreased in the plasma of female Fabry patients, which was not corrected by enzyme replac

109 ss than wild-type (WT) males, whereas female Fabry rats weighed significantly more than WT females.

110 ertz-level lasers stabilized to high-finesse Fabry-Perot cavities are typically used for these studie

111 single alkali atom coupled to a high-finesse Fabry-Perot cavity.

112 he use of optical resonators in high-finesse Fabry-Perot configurations.

113 ans and pathologists who diagnose and follow Fabry patients.

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

115 alogues are promising urinary biomarkers for Fabry disease.

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

117 ry cultures of aortic endothelial cells from Fabry mice retain the phenotype of elevated globo-series

118 h as healthy cells versus those derived from Fabry patients.

119 lyso-Gb3 analogues in plasma and urine from Fabry patients have recently been described by our group

120 SRD), changes in cardiac and renal function, Fabry-related symptoms (pain, hypohidrosis, diarrhea), a

121 torage diseases (GM1 and GM2 gangliosidosis; Fabry, Gaucher, and Krabbe diseases; and metachromatic l

122 ed disease processes in a recently generated Fabry rat model.

123 oscillations in ballistic trilayer graphene Fabry-Perot interferometers, which result from phase coh

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

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

126 However, Fabry patients had a higher risk of death compared with

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

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

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

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

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

132 physical systems, including single atoms in Fabry-Perot resonators, quantum dots coupled to micropil

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

134 onally, glutathione levels were decreased in Fabry mouse tissues in a sex-dependent manner.

135 enzymes were expressed that are deficient in Fabry and Gaucher diseases and in Hurler and Hunter synd

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

137 ned pharmacodynamic response and efficacy in Fabry mice model.

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

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

140 ts related analogues in plasma are higher in Fabry males compared to Fabry females and higher for unt

141 Conclusions LGE in Fabry has chronic local T2 elevation that is strongly as

142 reproducibility compared with cardiac MRI in Fabry disease.

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

144 Mitral valve thickening was observed in Fabry rats using echocardiography.

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

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

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

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

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

150 mediate the endothelial dysfunction seen in Fabry disease.

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

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

153 several other lysosomal disorders, including Fabry's disease, Pompe's disease, lysosomal acid lipase

154 ild-type and alpha-galactosidase A-knockout (Fabry) mice was possible at about ten micrometer resolut

155 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(alpha-galactosidase A g

156 emonstrate a compact, self-injection locked, Fabry-Perot semiconductor laser diode with high output p

157 ow quality factor of asymmetric highly-lossy Fabry-Perot cavities.

158 eflection band at yellow wavelength with low Fabry-Perot background at normal incidence.

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

160 lated novel biomarkers in the plasma of male Fabry patients.

161 survival was detected, we observed that male Fabry rats had a decreased lifespan.

162 We found that male Fabry rats weighed significantly less than wild-type (WT

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

164 hree types of optical resonators; microring, Fabry-Perot cavity, and plasmonic metal nanoparticle.

165 ons predict that the crystal photonic modes (Fabry-Perot modes) can be enhanced by coating the crysta

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

167 ependent absorption over 80% in a multilayer Fabry-Perot structure with alpha-MoO(3) is reported with

168 using newly developed arrayed nanostructured Fabry-Perot interferometer (FPI) microchips.

169 kidney transplant recipients with other (non-Fabry) causes of ESRD.

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

171 subset of male samples revealed seven novel Fabry biomarkers in urine, all lyso-Gb(3) analogues havi

172 Compared to previous imaging studies of NW Fabry-Perot modes using electron microscopy or near-fiel

173 or CV events occurred in approximately 5% of Fabry Registry patients during the natural history perio

174 ystem effectively combines the advantages of Fabry-Perot microresonators with those of plasmonic nano

175 and kidney but not in the liver and aorta of Fabry mice.

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

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

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

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

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

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

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

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

184 e individual to another in the same group of Fabry patients, irrespective of ERT.

185 ditionally been manipulated with the help of Fabry-Perot resonances.

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

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

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

189 uscular administration in the mouse model of Fabry disease.

190 y strongly coupling them to optical modes of Fabry-Perot type cavities.

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

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

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

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

195 provide insight into the pathophysiology of Fabry disease.

196 lipids and develop cardiorenal phenotypes of Fabry disease.

197 argeted as biomarkers in urine and plasma of Fabry patients: globotriaosylceramide (Gb(3)) and globot

198 docyte injury and loss in the progression of Fabry nephropathy and indicates a need for therapeutic i

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

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

201 ) was employed for reading out the signal of Fabry-Perot based interferometers acting as biotransduce

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

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

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

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

206 currently in clinical trial for treatment of Fabry disease.

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

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

209 Here we present the use of Fabry-Perot enhanced terahertz (THz) Mueller matrix elli

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

211 ficiency in disease phenotypes, 12-month-old Fabry mice were treated with gene transfer-mediated ERT

212 Conventional lasers based on Fabry-Perot cavities are limited in device size.

213 any conventional dielectric coatings rely on Fabry-Perot-type interference, involving multiple optica

214 t there was vascular leakage in at least one Fabry rat.

215 a study of monolayer WS2 coupled to an open Fabry-Perot cavity at room-temperature, in which polarit

216 A biosensing system based on an optical Fabry-Perot (FP) cavity, capable of directly detecting t

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

218 When VO2 is in the metallic phase, Fabry-Perot type of resonance occurs and the tri-layer s

219 omatic optical transmission through a planar Fabry-Perot micro-cavity via angularly multiplexed phase

220 lood spots for the early detection of Pompe, Fabry, and Hurler diseases in newborns.

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

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

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

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

225 and patterned in situ within an oxidized PSi Fabry-Perot thin film.

226 Here, we demonstrate electrically pumped Fabry-Perot type waveguide lasing from laser diodes that

227 ducting qubits, and confined in high-quality Fabry-Perot cavities in the quantum regime.

228 spaced lines by beating it with a reference Fabry-Perot comb confirms the THz comb operation.

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

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

231 A) mutations determining clinically relevant Fabry disease.

232 al measurement technique based on a scanning Fabry-Perot interferometer, we observe long-living narro

233 nt a novel DFCS approach based on a scanning Fabry-Perot micro-cavity resonator (SMART) providing a s

234 ed in a group of six patients who had severe Fabry nephropathy; the progression rate was -0.23 +/- 1.

235 stants using interferometry from a porous Si Fabry-Perot layer is presented.

236 from the longitudinal modes native to simple Fabry-Perot cavities.

237 r and trilayer graphene, loaded on a Si/SiO2 Fabry-Perot resonator in the 545-700 nm range.

238 Two disease-specific Fabry biomarkers have been identified and quantified in

239 ty were observed comparing normal and low T1 Fabry patients.

240 We conclude that Fabry rats recapitulate important kidney and heart pheno

241 We found that Fabry rats developed corneal and lenticular opacities to

242 Cox multivariate analysis revealed that Fabry patients had a 40% lower risk of returning to dial

243 tallization level of GST from 0% to 90%, the Fabry-Perot resonance supported inside each slit can be

244 , also known as the spoof SPP modes, and the Fabry-Perot (FP) modes.

245 een the alpha-MoO(3) optical phonons and the Fabry-Perot cavity resonances.

246 The perfect absorption is achieved by the Fabry-Perot cavity resonance via multiple reflections be

247 In the Fabry mice receiving SRT but not ERT, BH4 deficiency was

248 ular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and lo

249 ith Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS).

250 NWs reveal a series of resonances due to the Fabry-Perot modes of the NWs.

251 The high radiation efficiency is due to the Fabry-Perot resonances associated with waveguide modes i

252 CuO, we exploit single-crystal CuO as a THz Fabry-Perot cavity to resonantly enhance the excitation'

253 plasma are higher in Fabry males compared to Fabry females and higher for untreated males compared to

254 to forward-propagating waves; in contrast to Fabry-Perot-type interference in resonant-tunneling stru

255 NOS) uncoupling are thought to contribute to Fabry cardiovascular diseases.

256 trate that the optical resonances are due to Fabry-Perot and whispering-gallery cavity modes supporte

257 inically relevant agalA mutations leading to Fabry disease.

258 using monolithically integrated transmission Fabry-Perot (F-P) cavity filters.

259 guided resonances arise from the transverse Fabry-Perot condition, and the divergence of the resonan

260 py (ERT) and 54 untreated and 19 ERT-treated Fabry females, along with 34 male and 25 female healthy

261 One untreated Fabry female and two treated Fabry females presented abnormal levels of Ga2 but norma

262 Cleaved-coupled cavities, two Fabry-Perot cavities that are axially coupled through an

263 ctra at multiple wavelengths: in ultraviolet Fabry-Perot resonances, in visible and near-infrared dif

264 Urinary metabolites of 63 untreated Fabry patients and 59 controls were analyzed.

265 One untreated Fabry female and two treated Fabry females presented abn

266 onstration of spread-spectrum encoding using Fabry-Perot etalons.

267 w-up, clinical stability was evaluated using Fabry Stabilization Index.

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

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

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

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

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

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

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

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

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

277 transplantation outcomes among patients with Fabry disease remain controversial.

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

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

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

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

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

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

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

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

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

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

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

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

290 history of CV complications in patients with Fabry disease.

291 ly contributes to morbidity in patients with Fabry disease.

292 leading cause of mortality in patients with Fabry disease.

293 he diagnosis and monitoring of patients with Fabry disease.

294 that we used to categorize 67 patients with Fabry's disease for randomization to 6 months of double-

295 enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome S

296 rical natural history data for patients with Fabry's disease who were not treated with enzyme replace

297 sis of 197 kidney transplant recipients with Fabry indicates that they have superior graft survival a

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

299 years, 2 females) showed clinical worsening (Fabry Stabilization Index >20%) at follow-up.

300 d predicted clinical worsening after 1 year (Fabry stabilization index >20%, P=0.034).