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 (alpha-galactosidase A deficiency) is an X

3 Fabry disease (FD) is a progressive multisystemic disord

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

5 Fabry disease is a lipid storage disorder resulting from

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 caused by

10 Fabry disease is a lysosomal storage disorder that resul

11 Fabry disease is a metabolic disorder without a specific

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

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

14 Fabry disease is an inborn error of glycosphingolipid ca

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

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

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

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

19 Fabry disease is an X-linked lysosomal storage disorder

20 Fabry disease is an X-linked lysosomal storage disorder

21 Fabry disease is an X-linked lysosomal storage disorder

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

23 Fabry disease is an X-linked recessive disorder resultin

24 Fabry disease is an X-linked recessive inborn metabolic

25 Fabry disease is an X-linked recessive lysosomal storage

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

27 Fabry disease is caused by deficient activity of lysosom

28 Fabry disease leads to renal, cardiac, and cerebrovascul

29 Fabry disease results from deficient alpha-galactosidase

30 Fabry disease, a genetic disorder caused by deficiency o

31 Fabry disease, OMIM 301500, is a progressive multisystem

32 Fabry males had higher excretion levels compared to fema

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

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

35 Fabry's disease is associated with an increased incidenc

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

37 Fabry's disease, lysosomal alpha-galactosidase A deficie

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

39 egrins were measured by flow cytometry in 21 Fabry patients and 10 controls.

40 Plasma from all 25 Fabry patients and 15 of the 25 controls were studied fo

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

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

43 post-treatment dermatologic biopsies from 58 Fabry patients enrolled in a 5 mo, Phase 3 double-blind,

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

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

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

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

48 on, each individual ZnO nanowire serves as a Fabry-Perot optical cavity, and together they form a hig

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

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

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

52 cleaved edges of the crystal resulting in a Fabry-Perot resonator.

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

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

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

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

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

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

59 ference between propagating electron waves-a Fabry-Perot electron resonator based on individual singl

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

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

62 Laser action with a Fabry-Perot spectrum covering all wavelengths from 6 to

63 pared with placebo in patients with advanced Fabry disease.

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

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

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

67 urinary analogue distributions varied among Fabry patients.

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

69 carriages, diabetes, autoimmune disease, and Fabry's disease).

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

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

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

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

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

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

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

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

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

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

80 ity (approximately 25 micro A per tube), and Fabry-Perot interferences at low temperatures.

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

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

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

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

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

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

87 Among these rare orphan diseases are Fabry's disease, in which the heart, kidney, gastrointes

88 s show that these structures can function as Fabry-Perot optical cavities with mode spacing inversely

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

90 tment of lysosomal storage disorders such as Fabry disease.

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

92 radiation patterns that correlate with axial Fabry-Perot modes (Q approximately 10(3)) observed in th

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

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

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

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

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

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

99 present in 6 unrelated patients with cardiac Fabry disease.

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

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

102 In classic Fabry patients, accelerated coronary atherosclerosis and

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

104 novel molecular mechanism causing classical Fabry disease.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

121 4 was also decreased in the plasma of female Fabry patients, which was not corrected by enzyme replac

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

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

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

125 ans and pathologists who diagnose and follow Fabry patients.

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

127 alogues are promising urinary biomarkers for Fabry disease.

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

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

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

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

132 ood hematopoietic stem/progenitor cells from Fabry patients have low-background huCD25 expression and

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

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

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

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

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

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

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

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

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

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

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

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

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

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

147 and prevent the dermatologic disturbances in Fabry patients, and that periodic dermal biopsies can se

148 and have widespread therapeutic efficacy in Fabry disease.

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

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

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

152 ues such as the cardiac muscle and kidney in Fabry's disease, skeletal muscle in patients with Pompe'

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

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

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

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

157 mediate the endothelial dysfunction seen in Fabry disease.

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

159 benefit of this treatment has been slight in Fabry's disease and is yet to be fully shown in the othe

160 is consistent with a prothrombotic state in Fabry patients compared with controls.

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

162 activity in the livers of rAAV-AGA-injected Fabry mice was 20-35% of that of the normal mice.

163 ctin (CAG) promoter to alpha-gal A knockout (Fabry) mice.

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

165 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(alpha-galactosidase A g

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

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

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

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

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

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

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

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

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

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

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

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

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

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

180 y further elucidate HLA-based association of Fabry's disease and resistance to activated protein C wi

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

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

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

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

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

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

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

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

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

190 uscular administration in the mouse model of Fabry disease.

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

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

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

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

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

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

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

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

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

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

201 provide insight into the pathophysiology of Fabry disease.

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

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

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

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

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

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

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

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

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

211 currently in clinical trial for treatment of Fabry disease.

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

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

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

215 and injected into the hepatic portal vein of Fabry mice.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

246 e expression of alpha-gal A in organs of the Fabry mice for >6 months.

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

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

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

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

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

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

253 inically relevant agalA mutations leading to Fabry disease.

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

255 Preselection of transduced Fabry mouse bone marrow cells elevated the level of mult

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

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

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

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

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

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

262 nd other tissues compared with the untouched Fabry controls as long as 6 months after treatment.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

280 transplantation outcomes among patients with Fabry disease remain controversial.

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

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

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

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

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

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

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

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

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

290 history of CV complications in patients with Fabry disease.

291 ly contributes to morbidity in patients with Fabry disease.

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

293 on thrombotic complications in patients with Fabry disease.

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

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

296 Analysis of HLA typing in patients with Fabry's disease may further elucidate HLA-based associat

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

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

299 he kidneys, heart, and skin in patients with Fabry's disease, reversing the pathogenesis of the chief

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