93. A Phase2 clinical trial to assess the safety and tolerability of the pharmacological chaperone AT 2101 in treatment-naive adult patients with type I Gaucher disease (English)
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Title:93. A Phase2 clinical trial to assess the safety and tolerability of the pharmacological chaperone AT 2101 in treatment-naive adult patients with type I Gaucher disease
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Table of contents – Volume 99, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 99
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Vasculopathy in patients with Fabry disease: Current controversies and research directionsRombach, S. M. / Twickler, T. B. / Aerts, J. M. / Linthorst, G. E. / Wijburg, F. A. / Hollak, C. E. et al. | 2010
- 109
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Management of phenylketonuria in Europe: Survey results from 19 countriesBlau, N. / Belanger-Quintana, A. / Demirkol, M. / Feillet, F. / Giovannini, M. / MacDonald, A. / Trefz, F. K. / Spronsen, F. v. et al. | 2010
- 116
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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyteWeisfeld-Adams, J. D. / Morrissey, M. A. / Kirmse, B. M. / Salveson, B. R. / Wasserstein, M. P. / McGuire, P. J. / Sunny, S. / Cohen-Pfeffer, J. L. / Yu, C. / Caggana, M. et al. | 2010
- 124
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Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometryTomatsu, S. / Montano, A. M. / Oguma, T. / Dung, V. C. / Oikawa, H. / Gutierrez, M. L. / Yamaguchi, S. / Suzuki, Y. / Fukushi, M. / Barrera, L. A. et al. | 2010
- 132
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Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimenAuclair, D. / Finnie, J. / White, J. / Nielsen, T. / Fuller, M. / Kakkis, E. / Cheng, A. / O'Neill, C. A. / Hopwood, J. J. et al. | 2010
- 142
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Biochemical profiling to predict disease severity in metachromatic leukodystrophyTan, M. A. / Fuller, M. / Zabidi-Hussin, Z. A. / Hopwood, J. J. / Meikle, P. J. et al. | 2010
- 149
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A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9Holla, O. L. / Strom, T. B. / Cameron, J. / Berge, K. E. / Leren, T. P. et al. | 2010
- 157
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Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: A study from the colon cancer family registryLindor, N. M. / Yang, P. / Evans, I. / Schowalter, K. / De Andrade, M. / Li, J. / Jeavons, E. / Peterson, G. / Gallinger, S. / Bapat, B. et al. | 2010
- 160
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PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosisGunay-Aygun, M. / Tuchman, M. / Font-Montgomery, E. / Lukose, L. / Edwards, H. / Garcia, A. / Ausavarat, S. / Ziegler, S. G. / Piwnica-Worms, K. / Bryant, J. et al. | 2010
- 174
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Polymorphisms of the insulin receptor and the insulin receptor substrates genes in polycystic ovary syndrome: A Mendelian randomization meta-analysisIoannidis, A. / Ikonomi, E. / Dimou, N. L. / Douma, L. / Bagos, P. G. et al. | 2010
- 184
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A 439kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysisCaliebe, A. / Vater, I. / Plendl, H. / Gesk, S. / Siebert, R. / Cremer, F. W. / Klein-Hitpass, L. et al. | 2010
- iii
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Table of Contents| 2010
- S3
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Lysosomal Disease Network's "WORLD Symposium 2010"Whitley, C. B. et al. | 2010
- S8
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4. Preliminary data on quantitative MRI and neuropsychological function in the mild form of MPS IIAhmed, A. / Nestrasil, I. / Rudser, K. / Delaney, K. / Shapiro, E. et al. | 2010
- S9
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9. Novel enzyme replacement therapy for Gaucher disease: Phase III pivotal clinical trial with plant cell expressed recombinantglucocerebrosidase (prGCD) - taliglucerase alphaAviezer, D. / Almon-Brill, E. / Shaaltiel, Y. / Chertkoff, R. / Hashmueli, S. / Zimran, A. et al. | 2010
- S10
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14. Polyneuropathy in Type 1 Gaucher disease: A two-year,multinational, prospective observational studyBiegstraaten, M. / Mengel, E. / Marodi, L. / Petakov, M. / Niederau, C. / Giraldo, P. / Hughes, D. / Mrsic, M. / Mehta, A. / Hollak, C. E. et al. | 2010
- S11
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18. Axonopathy in a mouse model of Krabbe diseaseBongarzone, E. / Cantuti, L. / Givogri, M. I. / Lopez-Rosas, A. / Pigino, G. / Morfini, G. / Brady, S. et al. | 2010
- S12
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23. Fabry disease identificationBrowning, M. et al. | 2010
- S13
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27. A study of intrathecal enzyme replacement for cognitivedecline in mucopolysaccharidosis IChen, A. / Dickson, P. / Shapiro, E. / Lyons, B. / Kan, S. h. / Guillaume, D. et al. | 2010
- S14
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32. Distinct features of disease phenotypes in two genetic models of NCLCotman, S. / Cao, Y. / Biswas, S. / Wolf, P. / Massey, A. / Cuervo, A. M. / MacDonald, M. / Lee, J. M. et al. | 2010
- S15
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37. Cervical cord compression in mucopolysaccharidosis diseasesDiethelm-Okita, B. / Whitley, C. B. et al. | 2010
- S16
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42. Immortalization of human MPS IVA chondrocytes: Development of a new tool to study pathophysiology and assess therapeutic strategies for MPS IVADvorak-Ewell, M. / Richard, M. / Vellard, M. et al. | 2010
- S17
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47. Computerized cognitive testing in patients with Fabry disease: A descriptive pilot studyElstein, D. / Doniger, G. / Simon, E. / Altarescu, G. et al. | 2010
- S18
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52. Long term outcome of haematopoietic stem cell transplantation (HCT) in 11 Hurler patients (MPS IH)Furlan, F. / Rovelli, A. / Corti, P. / Uziel, G. / Russo, P. / Sganzerla, E. / Gamba, A. / Piozzi, E. / Pellegrin, M. D. / Parini, R. et al. | 2010
- S19
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57. Mechanisms of psychosine toxicity in globoid cell leukodystrophyHawkins, J. / Parameswar, A. / Mydock, L. / Demchenko, A. / Han, X. / Sands, M. et al. | 2010
- S20
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61. Genetic counseling issues in the prenatal diagnosis of Fabry diseaseHewson, S. / Raiman, J. / Clarke, J. et al. | 2010
- S21
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66. Diagnosis of Maroteaux-Lamy (MPS VI) delayed by misleading urine glycosaminoglycan screeningIbrahim, J. / Flora, C. et al. | 2010
- S22
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71. RegistryNXT!: New technology to enhance data collection and reporting for the LSD registriesJones, C. / Cole, J. A. / Cutler, J. / Faherty, K. / Koepper, C. / van Kuijck, M. / Siegel, A. / Virkar, H. / Yee, J. et al. | 2010
- S23
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76. Fabry International Network-Worldwide Fabry patient nonprofit organizationKoning, A. E. / Sedal, R. / Schenk, E. / Bosman, K. / Baere, L. D. / Koning, M. et al. | 2010
- S25
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86. Tay-Sachs B1 variant: An amenable disorder to substrate reduction therapy?Lourenco, C. / Simon, J. / Simoes, A. / Simao, G. / Coelho, J. / Giugliani, R. / Jr, W. M. et al. | 2010
- S27
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96. Natural history and structural-functional relationships (SFR) in Fabry nephropathy (FN)Najafian, B. / Gubler, M. C. / Whitley, C. / Svarstad, E. / Bostad, L. / Mauer, M. et al. | 2010
- S29
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106. Longitudinal study of cognition in subjects with Niemann-Pick disease, type CPatterson, M. / Brown, T. / Vaurio, R. / Yanjanin, N. / Porter, F. et al. | 2010
- S30
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111. Empirical assessment of social/emotional function in children with MPS III: Preliminary observationsPotegal, M. / Donley, K. / Shapiro, E. et al. | 2010
- S31
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115. The use of hematopoietic stem cell transplantation in mucopolysaccharidosis type I Hurler: A single center experienceRaiman, J. / White, L. / Doyle, J. / Clarke, J. / Gassas, A. et al. | 2010
- S32
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120. Correlation of plasma cysteamine and WBC cystine levels at steady state in patients treated with cysteamine bitartrateRioux, P. / Gangoiti, J. et al. | 2010
- S34
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129. Raising medical awareness of a childhood neurological diseaseStehr, F. et al. | 2010
- S35
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134. Correction of cystine storage in cystinotic fibroblasts by recombinant cystinosinThoene, J. / Witcher, M. et al. | 2010
- S36
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138. Urine glycosaminoglycan response to different treatment modalities for the mucopolysaccharidosesUtz, J. / Rudser, K. / Diethelm-Okita, B. / Erickson, D. C. / Whitley, C. et al. | 2010
- S38
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147. Regional variations in Gaucher disease presentation and treatment: Data from the ICGG Gaucher registryWeinreb, N. / Linares, A. / Kim, H. / vom Dahl, S. et al. | 2010
- S40
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156. Enzyme replacement therapy with velaglucerase alfa improves key clinical parameters in a pediatric subgroup with type 1 Gaucher diseaseZimran, A. / Gonzalez, D. / Crombez, E. / Bhirangi, K. et al. | 2010
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17. A natural history study of hexosaminidase deficiencyBjoraker, K. / Eisengart, J. / Karachunski, P. / Oz, G. / Whitley, C. et al. | 2010
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40. Longitudinal/outcome studies of children with Krabbe diseaseDuffner, P. et al. | 2010
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46. Brain response to intrathecal or high dose enzyme replacementtherapy in the MPS I dogEllinwood, N. / Dickson, P. / Dierenfeld, A. / Kline, K. / Parkes, J. / Hanson, S. / Vite, C. / Mlikotic, A. / Chen, A. / Gross, W. et al. | 2010
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50. Early clinical markers of CNS involvement in MPS IIEscolar, M. / Holt, J. / Michelle, P. et al. | 2010
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53. Epidemiology and natural history of Wolman and cholesteryl ester storage diseasesGrabowski, G. et al. | 2010
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58. Abnormal vacuoles distinct from lysosomes in a mouse model of mucopolysaccharidosis type IIIBHeard, J. M. / Vitry, S. / Bruyere, J. / Hocquemiller, M. / Bigou, S. / Nosjean, A. / Ausseil, J. / Colle, M. A. / Prevost, M. C. et al. | 2010
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60. A multicenter, multinational, cross-sectional clinical assessment study of subjects with mucopolysaccharidosis IVA (Morquio syndrome)Henkel, C. / Decker, C. / Miller, M. et al. | 2010
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70. Review of 11 patients with NPC1 treated with miglustatJacklin, E. / Imrie, J. / Jones, S. / Wraith, E. et al. | 2010
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80. A novel mutation in the HEX B gene causing infantile Sandhoff disease: A high throughput semi-automated method for genetic screening of newbornsLehotay, D. / Fitterer, B. / Antonishyn, N. / Gravel, R. / Casey, R. et al. | 2010
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81. A novel, MS/MS assay to detect Tay-Sachs and Sandhoff disease using dried blood spotsLehotay, D. / Hall, P. / Gelb, M. et al. | 2010
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112. Novel role of lysosomal carboxypeptidase cathepsin A: Protective protein in regulation of vasoconstriction and elastogenesisPshezhetsky, A. et al. | 2010
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150. Gene therapy for Tay-Sachs diseaseWhitley, C. et al. | 2010
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116. Safety of agalsidase alfa in Fabry disease patients under 7 years oldRamaswami, U. / Parini, R. / Beck, M. et al. | 2010
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121. Immune thrombocytopenia in Type I Gaucher diseaseRosenbaum, H. / Napso, T. / Bonstein, L. et al. | 2010
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127. Comparative proteomics and lysosomal diseaseSleat, D. / Ding, L. / Wang, S. / Zhao, C. / Wang, Y. / Xin, W. / Zheng, H. / Moore, D. / Sims, K. / Lobel, P. et al. | 2010
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142. SOAR collaborative: Progress toward therapy for a lysosomal disease through an academic research-family partnershipWalkley, S. / Ory, D. / Ioannou, Y. / Platt, F. / Browne, R. / Gallo-Hadley, L. / Hadley, B. / Hempel, C. / Hempel, H. / Jacoby, J. et al. | 2010
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10. Life expectancy and cause of death in Fabry disease: Findings from the Fabry RegistryBanikazemi, M. / Patel, M. / Lemay, R. / Waldek, S. et al. | 2010
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13. A pharmacogenetic approach to pharmacological chaperonetherapy for Fabry diseaseBenjamin, E. / Wu, X. / Katz, E. / Mascioli, K. / Chang, K. / Lockhart, D. / Valenzano, K. et al. | 2010
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31. TRPML1 downregulation is associated with changes in lysosomal enzyme levelsColletti, G. / Miedel, M. / Wang, Y. / Weisz, O. A. / Kiselyov, K. et al. | 2010
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64. Measuring urinary mucopolysaccharidosis by dimethylmethylene-Tris spectrophotometric methodHuang, Y. / Zhao, X. / Lin, W. / Liu, L. et al. | 2010
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89. Demonstration of the in cellulo efficacy of pyrimethamine as a pharmacological chaperone for late onset Tay-Sachs Disease using a fluorescent GM2 ganglioside analogueMahuran, D. / Tropak, M. / Bukovac, S. / Rigat, B. / Yonekawa, S. / Wakarchuk, W. et al. | 2010
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99. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 diseaseOry, D. / Porter, F. / Scherrer, D. / Lanier, M. / Langmade, S. / Molugu, V. / Gale, S. / Olzeski, D. / Sidhu, R. / Wassif, C. et al. | 2010
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Cover 2 / Ed. Board| 2010
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20. Cardiac valvular interstitial cells in MPS IBraunlin, E. / Tolar, J. / Mackey-Bojack, S. / Marsh, T. / Orchard, P. / Schoen, F. et al. | 2010
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34. Macroautophagy is defective in mucolipin 1-deficient mouse neuronsCurcio-Morelli, C. / Charles, F. A. / Micsenyi, M. C. / Cao, Y. / Venugopal, B. / Browning, M. F. / Dobrenis, K. / Cotman, S. L. / Walkley, S. U. / Slaugenhaupt, S. A. et al. | 2010
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39. Newborn screening for lysosomal storage disorders: Tandemmass spectrometry to quantitate enzymatic activityDuffey, T. / Gelb, M. H. / Turecek, F. / Scott, C. R. / Khaliq, T. et al. | 2010
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62. Interaction between mutant glucocerebrosidase and Parkin: Its possible implication to the development of Parkinson diseaseHorowitz, M. / Ron, I. / Bar, I. et al. | 2010
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69. The therapeutic potential of small pharmacological molecules in the treatment of SialidosisO'Leary, E. M. / Igdoura, S. A. et al. | 2010
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125. The natural history of mucolipidosis type IVSchiffman, R. et al. | 2010
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130. The significance of focal splenic lesions (FSL) in Gaucher disease (GD1)Stein, P. / Mistry, P. et al. | 2010
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144. Fabry nephropathy (FN) and the agalsidase beta and ARBs and ACE inhibitor treatment (FAACET) study: Determinants of proteinuria during the titration phaseWarnock, D. G. / Jackson, L. / Thomas, C. / Phillips, E. / Guasch, T. / Laney, D. A. / Charrow, J. / Widera, S. et al. | 2010
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12. The blood-brain barrier: A central role in the pathology and treatment of neuronopathic lysosomal storage disordersBegley, D. et al. | 2010
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24. The prevalence and characterization of respiratory involvement in patients with Hunter syndrome in the Hunter Outcome SurveyBurton, B. / Smith, L. / Giugliani, R. / Ribeiro, E. / Raiman, J. et al. | 2010
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29. Genetic and pharmacological chaperone modulation of brain GCase activity affects synuclein accumulation in miceClark, S. / Sun, Y. / Xu, Y. H. / Pellegrino, L. / Lun, Y. / Frascella, M. / Khanna, R. / Grabowski, G. / Wustman, B. / Valenzano, K. et al. | 2010
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28. Alpha-synuclein aggregation in Gaucher patients and carriers with synucleinopathiesChoi, J. / Stubblefield, B. / Goker-Alpan, O. / Cookson, M. / Tayebi, N. / Sidransky, E. et al. | 2010
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36. Intrathecal enzyme replacement therapy treats meningeal storage and spinal cord compression in MPS I dogsDickson, P. / Ellinwood, N. M. / Dierenfeld, A. / Kline, K. / Parkes, J. / Hanson, S. / Vite, C. / Mlikotic, A. / Chen, A. / Gross, W. et al. | 2010
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94. The UBDRS predicts rate of JCNL (CLN3) disease progressionMink, J. / Kwon, J. M. / Marshall, F. J. / Adams, H. R. / Rothberg, P. G. / deBlieck, E. A. / Vierhile, A. / Newhouse, N. J. / Levy, E. J. / Augustine, E. F. et al. | 2010
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97. Brain volumes and neuropsychological function in attenuated and severe MPS INestrasil, I. / Ahmed, A. / Rudser, K. / Bjoraker, K. / Delaney, K. / Shapiro, E. et al. | 2010
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101. Regulation and review of small clinical trialsPariser, A. et al. | 2010
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103. Screening for Fabry and Pompe disease in high risk populations by enzyme assay of dried blood spotsParks, O. / Church, H. / Tylee, K. / Cooper, A. et al. | 2010
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123. Antigenic differences in patients receiving velaglucerase alfa or imiglucerase treatmentRuiz, J. / Barzegar, S. / Clarke, A. / Durant, J. / Milhaven, J. / Nadeau, M. / Nguyen, T. / Oommen, S. / Pan, L. / Rabinovich, D. et al. | 2010
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133. Lack of CLN3 results in altered physiology of mouse brain endothelial cellsTecedor, L. / Stein, C. / Davidson, B. et al. | 2010
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145. Scalability Of an AAV4-mediated gene therapy in sheep following intracerebroventricular administrationWeatherspoon, M. / Burright, E. / Billstrom, T. / Green, K. / Keimel, J. / Lentz, L. / Morris, M. / Kaemmerer, W. et al. | 2010
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Supplement Title page| 2010
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21. Glycan-based biomarkers for the mucopolysaccharidosesBrown, J. / Brown, J. R. / Carroll, R. / Tambe, N. / Glass, C. / Langford, K. / Le, S. / Victoroff, A. / Wraith, J. E. / Dickson, P. et al. | 2010
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25. Longitudinal studies of the glycoproteinoses: An international updateCathey, S. / Wilson, C. / Sillence, D. / Horowitz, L. / Noble, J. et al. | 2010
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83. Occurrence of multiple cancers in type 1 Gaucher disease (GD1)Lo, S. / Stein, P. / Yang, R. / Mistry, P. et al. | 2010
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84. GBA mutations and clinical features of patients evaluated at a referral clinic for Parkinson diseaseLopez, G. / Choi, J. / Gupta, N. / Stubblefield, B. / Goker-Alpan, O. / Tayebi, N. / Sidransky, E. et al. | 2010
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107. Bone response to Genz-112638 in a Phase 2 study in Gaucher disease type 1Peterschmitt, M. / Lukina, E. / Watman, N. / Arreguin, E. A. / Pastores, G. / Iastrebner, M. / Dragosky, M. / Rosenbaum, H. / Phillips, M. / Kaper, M. et al. | 2010
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117. Two-year longitudinal follow-up showing safety and effectiveness of enzyme replacement therapy using agalsidase alfa in children: Data from the Fabry outcome surveyRamaswami, U. / Parini, R. / Pintos-Morrell, G. / Kalkum, G. / Beck, M. et al. | 2010
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122. Statistical issues in clinical trials: Information growth in longitudinal trialsRudser, K. / Shoben, A. / Emerson, S. et al. | 2010
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155. Update on laboratory support at the Centers for Disease Control and Prevention for newborn bloodspot screening to detect lysosomal storage disordersZhou, H. / De Jesus, V. / Vogt, R. / Harry Hannon, W. et al. | 2010
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2. Visual aid skills and socioeconomic status in children with Batten diseaseAdams, H. / Newhouse, N. J. / Levy, E. J. / Mink, J. W. / Kwon, J. M. / Marshall, F. J. / de Blieck, E. / Vierhile, A. / Augustine, E. F. / Ramirez-Montealegre, D. et al. | 2010
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41. Metabolomic studies in Fabry disease using mass spectrometryDupont, F. / Gagnon, R. / Clarke, J. T. / Auray-Blais, C. et al. | 2010
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45. Are mutations in LIMP-2 associated with myoclonic epilepsy in patients with Gaucher disease?Ellen, S. / Gupta, N. / Velayati, A. / Choi, J. / Stubblefield, B. / Sidransky, E. / Tayebi, N. et al. | 2010
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55. A case report of Morquio syndrome (MPS IVA) with Morgagni diaphragmatic herniaHale, S. / White, K. / Krengel, W. / Otto, R. / Schubert, P. / Hahn, S. / Meehan,, J. et al. | 2010
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67. Immune cell phenotypes and cytokine response in a mouse model of sialidase deficiencyIgdoura, S. / White, E. / Yang, A. / Trigatti, B. et al. | 2010
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90. Efficacy of Genz-529468-mediated inhibition of glucosylceramide synthase in a mouse model of Sandhoff diseaseMarshall, J. / Ashe, K. / Li, L. / Nietupski, J. / Aerts, J. / Copeland, D. / Scheule, R. / Cheng, S. et al. | 2010
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108. Umbilical cord blood transplant of three siblings with juvenile metachromatic leukodystrophy (jMLD): Five year follow-upPierson, T. / Fischbeck, K. / Bunin, N. / Lehky, T. / Finkel, R. et al. | 2010
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131. CNS transplantation of purified human neural stem cells in infantile and late-infantile neuronal ceroid lipofuscinoses: Summary of the Phase I trialSteiner, R. / Huhn, S. / Koch, T. / Al-Uzri, A. / Guillaume, D. / Sutcliffe, T. / Vogel, H. / Selden, N. et al. | 2010
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139. The identification of recombinant alleles in Gaucher disease using real-time PCRVelayati, A. / Knight, M. A. / Stubblefield, B. K. / Sidransky, E. / Tayebi, N. et al. | 2010
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141. Cyclodextrin treatment not only delays but also reduces established intraneuronal storage in Niemann-Pick type C diseaseWalkley, S. / Davidson, C. / Ali, N. / Vanier, M. et al. | 2010
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148.A randomized controlled trial of enzyme replacement therapy in Fabry disease: The Canadian Fabry disease initiative at year threeWest, M. / LeMoine, K. / Bichet, D. / Clarke, J. / Casey, R. / Sirrs, S. / Auray-Blais, C. / Sinasac, D. / Flowerdew, G. et al. | 2010
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149. Children with MPS III (Sanfillipo syndrome) do demonstrate significant musculoskeletal findingsWhite, K. / Karol, L. / White, D. et al. | 2010
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153. Viral vector and neural stem cell therapies for Batten diseaseWong, A. / Rahim, A. / Ahmadi, S. / Uwanogho, D. / Waddington, S. / Price, J. / Cooper, J. et al. | 2010
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8. How useful is urinary lyso-Gb3 as a biomarker for Fabry disease?Auray-Blais, C. / Gagnon, R. / Warnock, D. G. / Young, S. P. / Millington, D. S. / Clarke, J. T. et al. | 2010
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16. A chemical genetic approach to identifying therapeutictargets for NCLBiswas, S. / Heetveld, S. / Wolf, P. / Cao, Y. / Norton, S. / Haggarty, S. / Cotman, S. et al. | 2010
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54. Hydrodynamic delivery of Sleeping Beauty transposons to canine liver via balloon cathetersHackett, P. / Urness, M. / Bell, J. / Aronovich, E. / Olson, E. / Hunter, D. / Mcivor, S. et al. | 2010
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63. Developing an evidence review process for newborn screening decision-makingHowell, R. R. et al. | 2010
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75. Fabry International Network - Fabry patient surveyKoning, A. E. / Sedal, R. / Schenk, E. / Bosman, K. / Baere, L. D. / Koning, M. et al. | 2010
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88. Brain MRS in patients with juvenile GM2 gangliosidosis receiving substrate reduction therapyMaegawa, G. / Schmitt, B. / Blaser, S. / Banwell, B. / Hayes, J. / Clarke, J. et al. | 2010
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92. First steps towards determination of the most efficient and effective newborn screening (NBS) approach for LSDMatern, D. / Lacey, J. / Sanders, K. / Magera, M. / Pino, G. B. / Grycki, E. / Wooley, E. / Raymond, K. et al. | 2010
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1. Update on longitudinal assessment of children with juvenile neuronal ceroid lipofuscinosis (Batten disease)Adams, H. / Newhouse, N. / Levy, E. J. / Kwon, J. M. / Marshall, F. J. / deBlieck, E. A. / Vierhile, A. / Augustine, E. F. / Ramirez, D. / Mink, J. W. et al. | 2010
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3. Comparative analysis of lysosome quantity, size, and location in normal and GM1-affected ovine, canine, and human fibroblasts using fluorescence microscopyAhern-Rindell, A. / Boran, L. / Chau, T. / Coady, T. / Harrison, M. et al. | 2010
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5. Reliability of manual and automated tracing of hippocampal volumes in MPS patients and normal controls: A report of the neuroimaging core of the lysosomal disease networkAhmed, A. / Nestrasil, I. / Rudser, K. / Shapiro, E. et al. | 2010
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30. Open-label Phase I/II clinical trial of pyrimethamine for the treatment of chronic GM2 gangliosidosisClarke, J. / Kolodny, E. / Mahuran, D. / Fuller, M. / Tropak, M. / Keimel, J. / Sathe, S. / Pesotchinsky, S. / Rigat, B. et al. | 2010
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65. A predictive severity score for Fabry diseaseHughes, D. / Malmenas, M. et al. | 2010
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82. Optimization of methods for MPS I newborn screeningKeutzer, J. et al. | 2010
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91. Management of lysosomal glycosphingolipid levels in animal models of Gaucher and Fabry disease with enzyme and substrate reduction therapiesMarshall, J. / Ashe, K. / Chuang, W. / Copeland, D. / Scheule, R. / Cheng, S. et al. | 2010
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109. Update on the longitudinal study of bone disease and the impact of growth hormone treatment in MPS I, II, and VIPolgreen, L. / Stevenson, D. / Bjoraker, K. / Petit, M. / Viskochil, D. / Whitley, C. et al. | 2010
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114. Suppression of autophagy as a therapeutic approach to Pompe diseaseRaben, N. / Schreiner, C. / Baum, R. / Takikita, S. / Plotz, P. et al. | 2010
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118. The necessity of evaluating serum hydrolases in patients with clinical manifestations suggestive of mucopolysaccharidosesRaymond, K. / Woolley, E. / Studinski, A. / Stephan, M. / Matern, D. et al. | 2010
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152. Long-term biochemical and neurobehavioral correction in a murine model of mucopolysaccharidosis type I following neonatal intracerebroventricular administration of a therapeutic adeno-associated virus vectorWolf, D. / Nan, Z. / Belur, L. / Swanson, D. / Lenander, A. / Whitley, C. / Gupta, P. / Low, W. / McIvor, R. S. et al. | 2010
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154. To screen MPS I in multiplex enzyme activity format using tandem mass spectrometryZhang, K. / Elbin, C. / Chuang, W. L. / Marashio, C. / Cooper, S. / Olivova, P. / Keutzer, J. et al. | 2010
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6. Post-surgical deaths among MPS I registry patientsArn, P. / Webb, H. W. / Cox, G. et al. | 2010
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22. Small molecule inhibitors of glycosaminoglycan biosynthesisas substrate optimization therapy for the mucopolysaccharidosesBrown, J. / Brown, J. R. / Carroll, R. / Glass, C. / Crawford, B. E. et al. | 2010
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26. A re-analysis of disease stage progression in Krabbe disease (infantile globoid cell leukodystrophy, iGLD)Charnas, L. / Nair, N. / Mensah, R. et al. | 2010
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48. Endogenous glucocerebrosidase gene expression in Gaucher diseaseElstein, D. / Chetrit, E. B. / Yaroslawitz, C. / Tylki-Szyma ska, A. / Czartoryska, B. / Chicco, G. / Zimran, A. et al. | 2010
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56. Genotype-phenotype correlation of two rarer Gaucher disease mutationsHale, S. / Sniderman-King, L. / Murray, M. / Horslen, S. / Weiss, A. / Merritt, J. L. / Hahn, S. et al. | 2010
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93. A Phase2 clinical trial to assess the safety and tolerability of the pharmacological chaperone AT 2101 in treatment-naive adult patients with type I Gaucher diseaseMehta, A. / Hughes, D. / Schneider, E. / Dinh, Q. et al. | 2010
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113. Role of mucolipin1-interacting proteins in mucolipidosis type IVPuertollano, R. / Vergarajauregui, S. et al. | 2010
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137. Medication therapy management services for lysosomal diseasesUtz, J. / Brummel, A. / Rudser, K. / Whitley, C. et al. | 2010
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146. Long-term data from the ICGG Gaucher Registry: Ten years of treatmentWeinreb, N. / Dahl, S. v. et al. | 2010
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157. Enzyme replacement therapy with velaglucerase alfa significantly improves key clinical parameters in type 1 Gaucher disease: Positive results from a randomized, double-blind, global, phase III studyZimran, A. / Gonzalez, D. / Lukina, E. A. / Ben Dridi, M. F. / Kisinovsky, I. / Crombez, E. / Bhirangi, K. et al. | 2010
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11. Marked variability in urinary Gb3/creatinine excretion in healthy infantsBarr, C. / Clarke, J. T. / Ntwari, A. / Drouin, R. / Auray-Blais, C. et al. | 2010
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15. The effect of long-term substrate reduction therapy withgenistein in a mouse model of MPS IIIBBigger, B. / Malinowska, M. / Wilkinson, F. / Langford-Smith, K. / Langford-Smith, A. / Wynn, R. / Wraith, E. / Wegrzyn, G. et al. | 2010
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43. Crystal structure of N370S mutant glucocerebrosidaseEdmunds, T. / Wei, R. / Hughes, H. / Boucher, S. / Vanpatten, S. / Pan, C. et al. | 2010
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44. Differences in language functioning in Hurler syndrome before and after HCT: A qualitative comparison of treatments and risk factorsEisengart, J. / Bjoraker, K. / Shapiro, E. et al. | 2010
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74. Immunological aspects of treatment of Pompe diseaseKishnani, P. / Banugaria, S. / DeArmey, S. / Mackey, J. / Young, S. / Bali, D. / Koeberl, D. / Rosenberg, A. / Messinger, Y. / Mendelsohn, N. et al. | 2010
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104. Alpha-galactosidase A enzyme replacement using the salivary glands as endogenous therapeutic production sitesPassineau, M. / Nega, K. / Paul, R. / Machen, L. / Zourelias, L. / Benza, R. et al. | 2010
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105. Gaucher disease: In need of foster care?Pastores, G. / Fisher, C. et al. | 2010
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128. Identifying the pathogenic mechanisms associated with ML II using zebrafish and feline modelsSteet, R. / Petrey, A. / Flanagan-Steet, H. / Haskins, M. et al. | 2010
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132. Acid phosphatase 5 removes the mannose 6-phosphate recognition marker from lysosomal proteinsSun, P. / Sleat, D. / Lecocq, M. / Hayman, A. / Jadot, M. / Lobel, P. et al. | 2010
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135. Identification of pyrimethamine derivatives showing improved enzyme enhancement efficacy towards mutant Hex ATropak, M. / Yonekawa, S. / Zhang, J. / Ho, K. / Aulakh, V. / Ciufolini, M. / Mahuran, D. et al. | 2010
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140. A validated disease severity scoring system for Fabry diseaseWaldek, S. / Giannini, E. / Mehta, A. / Hilz, M. / Beck, M. / Bichet, D. / Brady, R. / West, M. / Germain, D. / Wanner, C. et al. | 2010
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49. Five-year safety and efficacy of velaglucerase alfa in Gaucher disease type 1: Experience in clinic and home settingsElstein, D. / Zimran, A. / Cohn, G. M. / Bhirangi, K. et al. | 2010
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68. Impact of tumor necrosis factor-alpha deletion on astrolgliosis and microgliosis in the CNS of Sandhoff miceIgdoura, S. / Hooper, A. / Abou-ouf, H. / Randazzo, M. / Trigatti, B. et al. | 2010
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73. One year follow-up on chaperone therapy for two siblings with Adult Tay-Sachs DiseaseKeimel, J. J. et al. | 2010
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78. Environmental and genetic explorations into discordant disease expression in a pair of female monozygotic twins affected by Fabry diseaseLaney, D. / Fernhoff, P. / Hedge, M. / Alexander, C. et al. | 2010
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87. Stem cell repair of the central nervous systemLow, W. et al. | 2010
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100. Reprogramming HSC-derived erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with MPS type IPan, D. / Wang, D. / Zhang, W. / Kalfa, T. / Grabowski, G. / Davies, S. / Malik, P. et al. | 2010
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102. Update on lysosomal diseases research supported by The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): From basic science to newborn screening and therapeutic interventionsParisi, M. / Urv, T. K. / Oster-Granite, M. L. / Hanson, J. W. / Howell, R. R. et al. | 2010
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110. The role of cathepsin S in aortic disease in MPS I and MPS VII mice and dogsPonder, K. / Wu, S. / Metcalf, J. / Kovacs, A. / Mecham, B. / Knutsen, R. / O'Donnell, P. / Haskins, M. et al. | 2010
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119. Widening of in vitro spectrum of activity for pyrimethamine and its most active derivative in adult Tay-Sachs diseaseRigat, B. / Tropak, M. / Yonekawa, S. / Ciufolini, M. / Mahuran, D. et al. | 2010
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136. Classifying and managing infusion reactions to enzyme replacement therapy for lysosomal diseasesUtz, J. / Rudser, K. / Diethelm-Okita, B. / Erickson, D. C. / Whitley, C. et al. | 2010
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143. End stage renal disease in patients with Fabry disease: Natural history data from the Fabry registryWarnock, D. / Ortiz, A. / Cianciaruso, B. / Cizmarik, M. / Germain, D. / Mignani, R. / Oliveira, J. P. / Villalobos, J. / Vujkovac, B. / Waldek, S. et al. | 2010
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7. A urinary glycosaminoglycan analysis by tandem mass spectrometryAuray-Blais, C. / Bherer, P. / Gagnon, R. / Clarke, J. T. / Zhang, H. / An, Y. / Young, S. P. / Millington, D. S. et al. | 2010
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19. Carrier testing for MPS I and mucolipidosis II in the IrishTravelling CommunityBooth, K. / Tylee, K. / Church, H. / Stuart, F. / Cooper, A. et al. | 2010
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33. Assessment of neurological deterioration in subjects with LINCLCrystal, R. et al. | 2010
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35. Disease brain endothelia provide unique molecular signatures for CNS-directed enzyme therapyDavidson, B. / Chen, Y. H. / Chang, M. et al. | 2010
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38. A 34-amino acid peptide derived from tetanus toxin forneuronal targeting of lysosomal proteinsDobrenis, K. / Lippell, R. / Lubarsky, K. / Smith, K. / Bujnicki, H. / Cabahug, P. / Goldstein, D. et al. | 2010
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51. Lipids and membrane microdomains in Gaucher diseaseFuller, M. / Hein, L. / Snel, M. / Hopwood, J. et al. | 2010
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59. Molecular diagnosis of Lysosomal Storage Disorders by using resequencing array technologyHendriksz, C. / Bruce, C. / Gissen, P. et al. | 2010
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72. Transforming the development of treatments for lysosomal storage disordersKakkis, E. et al. | 2010
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77. The Rare Diseases Clinical Research Network's (RDCRN) Data Management and Coordination Center, J.P. Krischer, University of South Florida, Tampa, FLKrischer, J. et al. | 2010
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79. Spontaneous pneumothorax in a young man affected by Fabry diseaseLaney, D. / Fernhoff, P. / Abramowsky, C. / Roman-Rodriguez, J. / Hennigar, R. et al. | 2010
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85. Substrate reduction therapy in the treatment of neurolipidoses: Niemann-Pick type C as a paradigmLourenco, C. / Camelo, J. S. / der Linden, V. V. / Santos, M. L. / Albuquerque, R. / Turcato, M. / Ribeiro, E. / Marques, W. et al. | 2010
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95. Developmental and functional surveillance in preschoolchildren with lysosomal storage diseasesMsall, M. / Patricia, D. / Lyon, N. / Shapiro, E. et al. | 2010
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98. Chitotriosidase as a biomarker of cerebral adrenoleukodystrophyOrchard, P. J. / Basso, L. / Kivisto, T. / Raymond, G. / Charnas, L. / Lund, T. C. / Tolar, J. et al. | 2010
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124. Expansion of newborn screening panels: A systematic evaluation of Krabbe disease screening in New York StateSalveson, R. B. / Stone, P. et al. | 2010
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126. Longitudinal studies of brain structure and function in MPS disorders: A study of the Lysosomal Disease NetworkShapiro, E. et al. | 2010
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151. Pulmonary disease and exercise tolerance in boys with Fabry diseaseWilcox, W. et al. | 2010