ライフサイエンスコーパス: GSD

1 GSD function in terms of GM3-dependent adhesion and sign

2 GSD results from the deficiency of specific enzymes invo

3 GSD-1a and GSD-1b, the two major subgroups, have been co

4 GSD-Ib is characterized by disturbances in glucose homeo

5 GSD-Ib patients also have defects in the neutrophil resp

6 Glycogen storage disease type 1 (GSD-1) is a group of genetic disorders caused by a defic

7 Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by

8 d(-1) (RTD-model) and 0.03 +/- 0.03 L d(-1) (GSD-model) relative to experimentally determined Rs.

9 r brass instruments playing to 95.1 min(-1) (GSD = 3.8) for talking.

10 stinct Chilean ethnic groups: Hispanics (100 GSD, 100 controls), and Amerindians (20 GSD, 20 controls

11 etric Standard Deviation (GSD):2.0] and 146 (GSD:1.9) mug/m(3), respectively, which were similar to t

12 Glycogen storage disease type 1a (GSD-1a) is caused by a deficiency in microsomal glucose-

13 ients with glycogen storage disease type 1a (GSD-1a) primarily present with life-threatening hypoglyc

14 Glycogen storage disease type 1a (GSD-1a), characterized by hypoglycemia, liver and kidney

15 Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by muta

16 Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a deficiency in micr

17 found in any of the 31 GSD-IIIa patients, 2 GSD-IIId patients, nor 28 unrelated normal controls.

18 (100 GSD, 100 controls), and Amerindians (20 GSD, 20 controls); additionally an 8-year follow-up of 7

19 wo mutations were not found in any of the 31 GSD-IIIa patients, 2 GSD-IIId patients, nor 28 unrelated

20 Off-label use of empagliflozin in 4 GSD-Ib patients with incomplete response to granulocyte

21 a 43% risk reduction (geometric mean 1.65% [GSD 1.77] vs 2.87% [1.43], RR 0.57 [95% CI 0.34-0.96]; p

22 1.20) in the intervention arm versus 19.95% (GSD 1.10) in the control arm (risk ratio [RR] 0.93 [95%

23 sufficient destabilization to account for a GSD mechanism.

24 However, numerous species lack a GSD system and instead display temperature-dependent sex

25 ion was also found in 8 of the 10 additional GSD-IIIb patients.

26 GSD Ia HCA (three cases) with one additional GSD I patient showing submicroscopic 6q14.1 deletion.

27 veloped ab initio using a genetic algorithm (GSD-model) to shortlist 24 descriptors covering constitu

28 Finally, functional analyses among GSD loci were mapped back to skin features, providing in

29 ciencies in G6Pase and G6PT cause GSD-1a and GSD-1b, respectively.

30 GSD-1a and GSD-1b, the two major subgroups, have been confirmed at

31 of bone lymphatics in our models of GLA and GSD.

32 f bone lymphatics in mouse models of GLA and GSD.

33 P and a P(i) transporter and that GSD-Ib and GSD-Ic are deficient in the same G6PT gene.

34 their effects on GM3 expression pattern and GSD function, in comparison with effects of lyso-GM3 and

35 -GM3 and other lyso compounds is the same as GSD of original B16 cells.

36 Currently available GSD-1a animal models are not suitable to systematically

37 levels were significantly lower even before GSD was detectable by ultrasound.

38 The association between GSD and type 2 diabetes was strongest among participants

39 suggest an interesting relationship between GSD Ia HCA and steps to HCC transformation.

40 e modeling of a spectrum of hepatocyte-borne GSD-1a disease symptoms in mice and to efficiently study

41 The Chinese tongue sole, which has both GSD and ESD mechanisms, was used to map the dynamic expr

42 yte colony stimulating factor levels in both GSD-Ib mice and humans.

43 ontributes to residual glucose production by GSD Ia hepatocytes.

44 Deficiencies in G6Pase and G6PT cause GSD-1a and GSD-1b, respectively.

45 e sterol levels were analyzed in cholesterol GSD and controls.

46 ethnic groups at higher risk of cholesterol GSD.

47 Clinically, GSD-Ib patients manifest a metabolic phenotype of impair

48 Clinically, GSD-Ib patients manifest disturbed glucose homeostasis a

49 In addition to G6Pase deficiency, GSD-1b patients suffer neutropenia, neutrophil dysfuncti

50 on microscopy (SIM), ground-state depletion (GSD), and total internal reflection fluorescence microsc

51 attributed to ground-state destabilization (GSD) by desolvation and more recently to GSD by electros

52 population with genotypic sex determination (GSD) and fixed sex ratios.

53 In species with genetic sex determination (GSD), the sex identity of the soma determines germ cell

54 are the relevant quantities for determining GSD effects); (v) the GSD mechanism is inconsistent with

55 t the first screening, 23 patients developed GSD during 3640 person-years of follow-up.

56 well-established risk factor for developing GSD.

57 ed to be significantly related to developing GSD.

58 the associated geometric standard deviation (GSD) appeared to be higher for iodine than for cesium is

59 yuan were 166 [Geometric Standard Deviation (GSD):2.0] and 146 (GSD:1.9) mug/m(3), respectively, whic

60 s) was 19.07% (geometric standard deviation [GSD] 1.20) in the intervention arm versus 19.95% (GSD 1.

61 m 3.8 min(-1) (geometric standard deviation [GSD] = 3.1) for brass instruments playing to 95.1 min(-1

62 ], 2.26 mug/g, geometric standard deviation [GSD], 0.73, and GM, 27.04 mug/g, GSD, 0.57, respectively

63 ulations of patients with gallstone disease (GSD) and stone-free controls to identify differences in

64 Gallstone disease (GSD) is a common gastrointestinal disorder throughout th

65 Gallstone disease (GSD) is related to several diabetes risk factors.

66 ociation between DPI and gallstones disease (GSD).

67 set out to deconstruct genetic skin disease (GSD) into its various components, to more fully explore

68 Giraffe skin disease (GSD), a condition that results in superficial lesions in

69 tient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic ner

70 Type I glycogen storage disease (GSD) is caused by a deficiency of glucose-6-phosphatase

71 Glycogen storage disease (GSD) type 1a is an inborn error of metabolism caused by

72 Pase) give rise to glycogen storage disease (GSD) type 1a, which is characterized in part by hypoglyc

73 ction secondary to glycogen storage disease (GSD) type 1b.

74 tanding enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endog

75 like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in childr

76 Glycogen storage disease (GSD) type IX gamma2 is a rare inborn error of metabolism

77 stations of type 1 glycogen storage disease (GSD-1) in patients deficient in the glucose-6-phosphatas

78 reatment of type I glycogen storage disease (GSD-I) is to prevent hypoglycemia and its biochemical co

79 hatic anomaly (GLA) or Gorham-Stout disease (GSD) develop ectopic lymphatics in bone.

80 eficient mouse model and in 2 rare diseases (GSD-Ib and G6PC3 deficiency) led us to repurpose the wid

81 ion in the rare inherited metabolic disorder GSD-Ib without causing symptomatic hypoglycemia.

82 resis of the gelatinized starch dispersions (GSD).

83 assess the essential components that display GSD function, membranes with properties similar to those

84 ignificance as well because it distinguished GSD-IIIb from IIIa hence permitting diagnosis from a blo

85 The conformation of the German shepherd dog (GSD) varies considerably within the breed.

86 ignaling domain" or "glycosignaling domain" (GSD) separable from cholesterol- and caveolin-enriched m

87 ling domain" or the "glycosignaling domain" (GSD).

88 We describe a dominant GSD family with 13 affected members presenting with adul

89 haracterize the first family with a dominant GSD.

90 Mutations explaining GSD Ia and DGS were found but no specific causative muta

91 Glc(4) is a good candidate biomarker for GSD II.

92 ome 11q23; thus it is a strong candidate for GSD-1b.

93 , sphingomyelin, and c-Src are essential for GSD function, a small quantity of cholesterol and phosph

94 optimal health care and quality of life for GSD-1a patients.

95 The G6pc-/- mouse and canine models for GSD Ia were treated with the pan-peroxisomal proliferato

96 art and skeletal muscle in animal models for GSD.

97 The gene responsible for GSD-1b maps to human chromosome 11q23 and a candidate hu

98 ecessary prerequisite for mass screening for GSD II.

99 nts received annual follow-up screenings for GSD until 31 December, 2007.

100 d be a potential pharmacological therapy for GSD Ia in neonatal and pediatric patients as well as for

101 vent of a new enzyme replacement therapy for GSD II, there is a need for early identification of pati

102 feasibility of gene replacement therapy for GSD-1a, we have infused adenoviral vector containing the

103 The R864X and R1228X were not unique for GSD-IIIb as they were also found in GSD-IIIa patients (f

104 ow show that G6PT-deficient neutrophils from GSD-Ib patients are similarly impaired.

105 deviation [GSD], 0.73, and GM, 27.04 mug/g, GSD, 0.57, respectively) than of non-hypoallergenic dogs

106 ypoallergenic dogs (n = 160, GM, 0.77 mug/g, GSD, 0.71, and GM, 12.98 mug/g, GSD, 0.76, respectively)

107 0.77 mug/g, GSD, 0.71, and GM, 12.98 mug/g, GSD, 0.76, respectively).

108 analysis, we propose use of the USGS glasses GSD-1G (delta(7)Li 31.14 +/- 0.8 per thousand, 2sigma) a

109 r to the indoor PM2.5 air concentrations [GM(GSD):162 (2.1) and 136 (2.0) mug/m(3), respectively].

110 LD) development in a mouse model for hepatic GSD 1a.

111 Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by d

112 n addition to disrupted glucose homeostasis, GSD-Ib patients have unexplained and unexpected defects

113 human chromosome 11q23 and a candidate human GSD-1b cDNA that encodes a microsomal transmembrane prot

114 G6Pase deficiency that closely mimics human GSD-Ia.

115 se which mimics the pathophysiology of human GSD-1a patients was created to understand the pathogenes

116 at manifest symptoms characteristic of human GSD-1a.

117 Our results suggest that human GSD-Ia would be treatable by gene therapy.

118 haring 93-95% sequence homology to the human GSD-1b protein.

119 lication of glycogen storage disease type I (GSD I) and malignant transformation to hepatocellular ca

120 sphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kidney, while ac

121 Glycogen storage disease type Ia (GSD Ia) is caused by autosomal mutations in glucose-6-ph

122 Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by decreased ability of the li

123 Glycogen storage disease type Ia (GSD-Ia) is characterized by impaired glucose homeostasis

124 is, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized b

125 Glycogen storage disease type Ia (GSD-Ia), deficient in glucose-6-phosphatase-a (G6PC), is

126 Glycogen storage disease type Ia (GSD-Ia), which is characterized by impaired glucose home

127 Glycogen storage disease type-Ia (GSD-Ia) is caused by a lack of glucose-6-phosphatase-alp

128 iciency in glycogen storage disease type-Ia (GSD-Ia) leads to impaired hepatic autophagy, a recycling

129 arch therapy in patients with type Ia and Ib GSD.

130 Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder caused by a d

131 Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized

132 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosp

133 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosp

134 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosp

135 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously ex

136 Glycogen storage disease type Ib (GSD-Ib) is caused by deficiencies in the glucose-6-phosp

137 disease in glycogen storage disease type Ib (GSD-Ib).

138 Glycogen storage disease type-Ib (GSD-Ib), deficient in the glucose-6-phosphate transporte

139 identified in clinical cases of GSD type Ic (GSD-Ic) proposed to be deficient in an inorganic phospha

140 ients with glycogen storage disease type II (GSD II) typically excrete increased amounts of a glycoge

141 eficiency (glycogen storage disease type II [GSD II]), glycogen accumulates inside muscular lysosomes

142 Glycogen storage disease type III (GSD-III) is caused by a deficiency of glycogen debranchi

143 ty causes glycogen storage disease type III (GSD-III).

144 In GSD-1b subjects, we found lymphopenia and a reduced capa

145 s have explored neutrophils abnormalities in GSD-Ib, investigations regarding monocytes/macrophages r

146 toration of hepatic G6Pase-alpha activity in GSD-Ia mice not only attenuates the phenotype of hepatic

147 sed in treating the myeloid complications in GSD-Ib patients.

148 e acid alpha-glucosidase (GAA) deficiency in GSD II causes primarily muscle disease.

149 glucose-6-phosphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kid

150 Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene

151 molecular basis for functional deficiency in GSD-1b and raise the possibility that the defective G6P

152 ormalizes hepatic G6Pase-alpha deficiency in GSD-Ia (G6pc(-/-) ) mice for at least 24 weeks.

153 tion, may underlie the myeloid deficiency in GSD-Ib.

154 autophagy defect previously demonstrated in GSD Ia models.

155 ChREBP activity limits NAFLD development in GSD 1a by balancing hepatic TG production and secretion.

156 lecular pathogenesis of tumor development in GSD I is unclear.

157 ich may contribute to HCA/HCC development in GSD-Ib.

158 or neutropenia and neutrophil dysfunction in GSD Ib.

159 t the mechanism of neutrophil dysfunction in GSD-Ib arises from activation of the hypoxia-inducible f

160 he hypothesis that neutrophil dysfunction in GSD-Ib is due, at least in part, to ER stress and increa

161 one marrow underlies myeloid dysfunctions in GSD-Ib remains controversial.

162 erization of all 30 codon mutations found in GSD-Ib patients.

163 ique for GSD-IIIb as they were also found in GSD-IIIa patients (frequency of 10.3% and 5.2% in Caucas

164 ical trials for the replacement of G6Pase in GSD Ia and GAA in GSD II (Pompe disease).

165 e replacement of G6Pase in GSD Ia and GAA in GSD II (Pompe disease).

166 GM3, destroy or reduce clustering of GM3 in GSD, and inhibit GM3-dependent adhesion and signaling.

167 ransduction, initiated by clusters of GM3 in GSD, is blocked by sialyl alpha2-->1 Sph or lyso-GM3.

168 d 2 codon deletions, have been identified in GSD-Ib patients.

169 ta show that hepatic autophagy impairment in GSD-Ia is mediated by downregulation of SIRT1/FoxO3a/AMP

170 sis and de novo lipogenesis, is increased in GSD 1a.

171 Attenuation of hepatic ChREBP induction in GSD 1a liver aggravates hepatomegaly because of further

172 AAV vectors transduced liver and kidney in GSD Ia and striated muscle in GSD II mice to replace the

173 rols to cholesterol precursors were lower in GSD patients, whereas biliary phytosterol and cholestero

174 and kidney in GSD Ia and striated muscle in GSD II mice to replace the deficient enzyme in each dise

175 oninvasive biomarker of neurodegeneration in GSD IV.

176 s in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the dis

177 of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading

178 d higher levels of cholesterol precursors in GSD patients than in controls.

179 ry reports on residual glucose production in GSD Ia patients.

180 contribute to residual glucose production in GSD Ia.

181 omeostasis and supporting immune response in GSD-Ib.

182 leading to an increased autoimmunity risk in GSD-1b patients.

183 romosome 6p and loss of 6q were only seen in GSD Ia HCA (three cases) with one additional GSD I patie

184 an early event in the liver tumorigenesis in GSD I, and may be in general population.

185 and demonstrate that mutations uncovered in GSD-1b patients disrupt G6P transport.

186 molecular basis of enzymatic variability in GSD-III and to elucidate the mechanism for control of ti

187 molecular basis of enzymatic variability in GSD-III.

188 eated in proof-of-concept studies, including GSD III, IV and V.

189 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by

190 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by

191 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by

192 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from

193 CO exposures were moderate [geometric means (GSD) were 40.5 mug/m3 (17.3) and 2.21 ppm (1.47) respect

194 Most GSD-III patients are GDE deficient in both liver and mus

195 d singing (count median diameter = 53.0 mum, GSD = 1.69).

196 ts hepatic G6Pase-alpha deficiency in murine GSD-Ia and prevents chronic HCA formation.

197 corrected hepatic G6PT deficiency in murine GSD-Ib but the G6PC promoter/enhancer was more efficacio

198 The expression profiles of murine GSD-1b and G6Pase differ both in the liver and in the ki

199 liver and the kidney and corrects the murine GSD-Ia disease for at least 12 months.

200 G6pc -/- mice serving as a model of neonatal GSD Ia.

201 Using neonatal GSD-Ia mice, we now demonstrate that a combined adeno vi

202 Among the 1296 participants who exhibited no GSD at the first screening, 23 patients developed GSD du

203 tients who exhibited prevalent GSD, 2260 non-GSD participants received annual follow-up screenings fo

204 genes at 6q was reduced in more than 50% of GSD Ia HCA that were examined (n = 7).

205 To determine the molecular basis of GSD-III and elucidate the mechanisms for controlling tis

206 ed for the first time the molecular basis of GSD-III that differentially expressed in liver and muscl

207 The molecular basis of GSD-IV is not known, nor is there a known reason for the

208 PT gene were identified in clinical cases of GSD type Ic (GSD-Ic) proposed to be deficient in an inor

209 The underlying cause of GSD-Ib neutropenia is an enhanced neutrophil apoptosis,

210 phil/monocyte dysfunctions characteristic of GSD-1b patients.

211 Long-term complications of GSD Ia include hepatic adenomas and carcinomas, in assoc

212 ery presented with a post-natal diagnosis of GSD Ia.

213 ther patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients w

214 s indicate that the three different forms of GSD-IV were caused by mutations in the same GBE gene.

215 or in patients with the more severe forms of GSD-IV.

216 which disrupt the structure and function of GSD in B16 cells.

217 The authors explored the incidence of GSD in Taiwan and its condition-associated predictive fa

218 alleviate the pathological manifestations of GSD-1a in mice, suggesting that this disorder in humans

219 Here, we describe a mouse model of GSD IV that reflects this spectrum of disease.

220 Here, we describe two mouse models of GSD IV that reflect this spectrum of disease.

221 her our understanding of the pathogenesis of GSD-Ib.

222 ne in patients with various presentations of GSD-IV.

223 The baseline prevalence of GSD was 5.7% of the included participants.

224 The c-Src activation response of GSD isolated from B16 cells was inhibited strongly by si

225 better assess the potential significance of GSD on their locomotion.

226 The sizes of GSD Ia adenomas with chromosome 6 aberrations were large

227 so allowed for the modeling of a spectrum of GSD-1a phenotypes in terms of hepatic G6PC activity, fas

228 Using OMIM, we defined the current state of GSD as including 560 distinct disorders associated with

229 Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatospl

230 nstituted membrane closely simulates that of GSD in B16 cells, which is based on clustered GM3 organi

231 embranes with properties similar to those of GSD were reconstituted using GM3, sphingomyelin, and c-S

232 fully explain the sterol metabolic trait of GSD in any of the cohorts.

233 function of caveolae, but have no effect on GSD function.

234 However, only GSD-1b patients suffer infectious complications, which a

235 leading to a phenotype of lethal early onset GSD IV, with significant in utero accumulation of PG.

236 xhibit a phenotype similar to juvenile onset GSD IV, with wide spread accumulation of PG.

237 cluding 126 patients who exhibited prevalent GSD, 2260 non-GSD participants received annual follow-up

238 d and characterized candidate murine and rat GSD-1b cDNAs.

239 Such susceptibility of reconstituted GSD to lyso-GM3 and other lyso compounds is the same as

240 s demonstrated that AAV gene therapy reduced GSD IX gamma2 disease burden across all primary end poin

241 both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained i

242 n hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc(-/-) mice) and performed real

243 protein residues in the electrostatic stress GSD mechanism overlooks the fact that the positively cha

244 tection of target genes was performed in ten GSD Ia-associated HCA and seven general population HCA c

245 ole as a G6P and a P(i) transporter and that GSD-Ib and GSD-Ic are deficient in the same G6PT gene.

246 Using GSD-Ib mice, we showed that GSD-Ib neutrophils exhibited increased production of ER

247 mong giraffe categories, which suggests that GSD neck lesions do not impair normal neck movements and

248 biomechanical parameters are affected by the GSD's slope of the back and not by its curvature.

249 ozygosity in wolfdog breeds derived from the GSD, nonadmixed ancestry blocks (dog or wolf) were sever

250 ily in the liver, kidney, and intestine, the GSD-1b mRNA is expressed in numerous tissues, including

251 fer both in the liver and in the kidney; the GSD-1b transcript appears before the G6Pase mRNA during

252 ng one risk haplotype carried by 35 % of the GSD cases and 10 % of the GSD controls (OR = 5.1, p = 5.

253 and another haplotype present in 85 % of the GSD cases and 98 % of the GSD controls and conferring a

254 ied by 35 % of the GSD cases and 10 % of the GSD controls (OR = 5.1, p = 5.9 x 10(-5)), and another h

255 ent in 85 % of the GSD cases and 98 % of the GSD controls and conferring a protective effect against

256 omal aberrations were detected in 60% of the GSD Ia HCA and 57% of general population HCA.

257 None of the GSD Ia HCA had biallelic mutations in the HNF1A gene.

258 We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region o

259 manent, durable, long-term correction of the GSD-Ia phenotype.

260 we reiterate our previous arguments that the GSD mechanisms are not likely to play a major role in en

261 TD-model performed best in comparison to the GSD-model for these compounds (average absolute errors o

262 tities for determining GSD effects); (v) the GSD mechanism is inconsistent with the observed binding

263 utations in the gene that segregate with the GSD-1b disorder.

264 study, the analysis of the GDE gene in three GSD-IIIb patients by single-strand conformation polymorp

265 e second mutant alleles in each of the three GSD-IIIb patients were R864X, R1228X, and W68OX.

266 Individuals predisposed to GSD display increased biliary output of cholesterol in t

267 on (GSD) by desolvation and more recently to GSD by electrostatic stress.

268 a and/or neutrophil dysfunction secondary to GSD type 1b were treated with rhG-CSF.

269 s due to the TS stabilization rather than to GSD.

270 Lime-treated GSD exhibited thixotropic and viscoelastic behaviour.

271 adeno-associated virus (rAAV) vector-treated GSD-Ia mice (AAV-NT mice) expressing a wide range (0.9-6

272 tation was found in one of the remaining two GSD-IIIb patients.

273 Using GSD-Ib mice, we showed that GSD-Ib neutrophils exhibited

274 ect agreement), 0.80 (95% CI, .68-.93) using GSD assays (substantial agreement) and 0.79 (95% CI, .68

275 The present study was to examine whether GSD was independently associated with type 2 diabetes in

276 In both children and adults with GSD Ia, there is over-accumulation of hepatic glycogen a

277 nvolving 33 enzymatically proved adults with GSD II treated only with a low-carbohydrate/high-protein

278 l/L for > or = 7 h in most young adults with GSD-I.

279 d genetic alterations in HCA associated with GSD I.

280 overload and hepatosteatosis associated with GSD Ia, with beneficial effects that have implications f

281 netic characteristics of HCA associated with GSD Ia.

282 a and neutrophil dysfunction associated with GSD type 1b.

283 n or metabolic abnormalities associated with GSD-Ia.

284 atty liver disease were also associated with GSD.

285 ilar pathological and metabolic changes with GSD Ia.

286 ary findings suggested that individuals with GSD lesions move with greater difficulty which may in tu

287 pecific association of exon 3 mutations with GSD-IIIb may provide insight into mechanisms controlling

288 cription of ocular changes in a patient with GSD Ia and DGS.

289 dult 33-year-old Caucasian male patient with GSD type Ib accompanied with IBD-like disease with persi

290 Patients with GSD 1a exhibit severe hepatomegaly due to glycogen and t

291 orts were analyzed: 112 German patients with GSD and 152 controls; two distinct Chilean ethnic groups

292 Patients with GSD IX gamma2 develop hypoglycemia and advanced liver di

293 This therapy may allow patients with GSD to sleep through the night without awakening for the

294 ntrast to G6Pase(-/-) mice and patients with GSD type 1a, UGRP(-/-) mice exhibit no change in hepatic

295 ion as do G6Pase(-/-) mice and patients with GSD type 1a.

296 We suggest that symptomatic patients with GSD type Ib should undergo endoscopic examination in ord

297 In seven patients with GSD-I with a mean age of 19.5 y (range: 18.8-21.7 y), we

298 ios (HRs) for type 2 diabetes for those with GSD were 1.09 (95% CI: 0.96-1.24; P = 0.206), 1.21 (95%

299 e between healthy individuals and those with GSD, while individuals with snare wounds showed more dis

300 Compared with participants without GSD at baseline, the multivariate-adjusted hazard ratios