WORLDSymposium 2019 Abstract Submission: Keywords

Keyword codes aid in the review process and if applicable, placement of the abstract in a session. You will be asked to enter up to five (5) keyword codes in order of importance.

  1. AAV
  2. acid alpha-glucosidase
  3. acid beta-glucosidase
  4. acid ceramidase deficiency
  5. acid sphingomyelinase deficiency
  6. activities of daily living
  7. agalsidase
  8. alglucosidase
  9. alpha-galactosidase
  10. alpha-L-iduronidase deficiency
  11. alpha-mannosidosis
  12. alpha-N-acetylglucosaminidase
  13. antibodies
  14. aspartylglucosaminuria
  15. autophagy
  16. Batten disease
  17. beta-galactosidase
  18. beta-mannosidosis
  19. biomarker
  20. blood brain barrier
  21. bone
  22. bone marrow transplantation
  23. cardiomyopathy
  24. cartilage
  25. cathepsin A
  26. central nervous system
  27. Chanarin-Dorfman syndrome
  28. chaperone
  29. cholesteryl ester storage disease
  30. Christianson syndrome
  31. cognition
  32. CRISPR
  33. cross-reacting material (CRIM)
  34. cysteamine
  35. cystinosis
  36. cytokines
  37. Danon disease
  38. dendritic cells
  39. education
  40. efficacy
  41. eliglustat
  42. endochondral ossification
  43. enzyme replacement therapy (ERT)
  44. exocytosis
  45. exosomes
  46. eye findings
  47. Fabry disease
  48. Farber disease
  49. fucosidosis
  50. galactosialidosis
  51. galactosialidosis (combined neuraminidase & beta-galactosidase deficiency)
  52. galactosylceramidase
  53. gangliosidosis
  54. Gaucher disease
  55. gene editing
  56. gene therapy
  57. gene transfer
  58. genetic counseling
  59. genotype-phenotype correlation
  60. globoid cell leukodystrophy
  61. globotriaosylceramide
  62. globotriaosylsphingosine
  63. glomerular parietal epithelial cells
  64. glucocerebrosidase
  65. glucosylceramide
  66. glucosylsphingosine, lysoglucocerebroside
  67. glycogen storage disease type II
  68. glycosaminoglycans
  69. glycosphingolipids
  70. GM1-gangliosidosis
  71. GM2-gangliosidosis
  72. hematopoietic stem cell transplant (HSCT)
  73. hepcidin
  74. histone deacetylase inhibitor
  75. Hunter Outcome Survey (HOS)
  76. hyaluronidase deficiency
  77. hydrops fetalis
  78. idursulfase
  79. imiglucerase
  80. immune response
  81. immune tolerance
  82. immunology
  83. immunomodulation
  84. incidence
  85. induced pluripotent stem cells (iPSC)
  86. infantile free sialic acid storage disease (ISSD)
  87. infantile onset
  88. infertility
  89. inflammation
  90. infusion-related reaction
  91. intestinal disaccharidases
  92. intracerebroventricular (icv) administration
  93. intranasal
  94. intrathecal delivery
  95. Kanzaki disease
  96. kidney transplant
  97. kinematics
  98. Krabbe disease
  99. late-onset
  100. lectin
  101. longitudinal study
  102. lymphedema
  103. lyso-GB3
  104. lysosomal acid lipase deficiency (LALD)
  105. lysosphingolipids
  106. magnetic resonance imaging MRI)
  107. mannose
  108. mannose-6-phosphate (M6P)
  109. mass spectrometry
  110. mass spectrometry
  111. mesenchymal stem cells
  112. metachromatic leukodystrophy (MLD)
  113. methylation
  114. microglia
  115. migalastat
  116. miglustat
  117. miRNA
  118. mitochondria
  119. modifier gene
  120. mortality
  121. mouse
  122. mucolipidosis (ML)
  123. mucolipidosis I, sialidosis (ML I)
  124. mucolipidosis III, pseudo-Hurler polydystrophy (ML III)
  125. mucolipidosis IV (ML IV)
  126. mucolipidosisI II, Leroy disease, I-cell disease (MLII)
  127. mucopolysaccharidosis (MPS)
  128. mucopolysaccharidosis I (MPS I)
  129. mucopolysaccharidosis IH, Hurler syndrome (MPS IH)
  130. mucopolysaccharidosis II, Hunter syndrome (MPS II)
  131. mucopolysaccharidosis IIHS, Hurler-Scheie syndrome (MPS IHS)
  132. mucopolysaccharidosis III, Sanfilippo syndrome (MPS III)
  133. mucopolysaccharidosis IIIA, Sanfilippo syndrome type A (MPS IIIA)
  134. mucopolysaccharidosis IIIB, Sanfilippo syndrome type B (MPS IIIB)
  135. mucopolysaccharidosis IIIC, Sanfilippo syndrome type C (MPS IIIC)
  136. mucopolysaccharidosis IIID, Sanfilippo syndrome type D (MPS IIIC)
  137. mucopolysaccharidosis IS, Scheie syndrome (MPS IS)
  138. mucopolysaccharidosis IV, Morquio syndrome (MPS IV)
  139. mucopolysaccharidosis IVA, Morquio syndrome type A (MPS IVA)
  140. mucopolysaccharidosis IVB, Morquio syndrome type B (MPS IVB)
  141. mucopolysaccharidosis IX, Natowicz syndrome (MPS IX)
  142. mucopolysaccharidosis VI, Maroteaux-Lamy syndrome (MPS VI)
  143. mucopolysaccharidosis VII, Sly syndrome (MPS VII)
  144. multiple myeloma
  145. multiple sulfatase deficiency (MSD)
  146. multisensory
  147. muscle
  148. mutation
  149. mutation
  150. myeloperoxidase
  151. natural history
  152. nephropathic
  153. nephrotic syndrome
  154. neuraminidase
  155. neurodegeneration
  156. neuroimaging
  157. neuroinflammation
  158. neurological status
  159. neuromuscular diseases
  160. neuron
  161. neuronal ceroid lipofuscinoses
  162. neuronal ceroid lipofuscinosis (NCL, CLN)
  163. neuronopathic
  164. neuropathology
  165. neuropsychology
  166. neutral lipid storage disease (NLSD)
  167. newborn screening
  168. Niemann-Pick disease
  169. non-neuronopathic
  170. olipudase
  171. oral delivery
  172. osteoporosis
  173. outcomes
  174. oxidative stress
  175. pain
  176. palmitoyl protein thioesterase 1 (PPT1)
  177. Parkinson disease
  178. pathology
  179. pentosan polysulfate
  180. phagocytosis
  181. pharmacogenetics
  182. pharmacokinetics
  183. phenotype
  184. platelets
  185. podocyte
  186. Pompe disease, (glycogen storage disease type II
  187. pregnancy
  188. proteinuria
  189. proteomics
  190. pseudodeficiency
  191. psychology
  192. psychosine
  193. pulmonary function
  194. pycnodysostosis
  195. quality of life
  196. quantitative
  197. questionnaire
  198. recombinant enzymes
  199. recommended uniform screening panel (RUSP)
  200. registry
  201. renal
  202. reproduction
  203. retina
  204. Salla disease
  205. Sandhoff disease
  206. Schindler disease
  207. screening
  208. sebelipase alfa
  209. severity
  210. sialic acid storage disease
  211. sialidosis
  212. sleep apnea/sleep disordered breathing
  213. social media
  214. software
  215. spinal cord
  216. spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)
  217. spleen
  218. splicing
  219. stature
  220. stem cell transplantation
  221. structure
  222. substrate reduction therapy
  223. sulfamidase
  224. sulfatase modifying factor 1 (sumf1)
  225. sulfatidosis
  226. survey
  227. survival
  228. sympathetic skin response
  229. synapse
  230. synuclein
  231. T cell
  232. taliglucerase
  233. Tay-Sachs disease
  234. transforming growth factor-beta (TGF-beta)
  235. transfusion reaction
  236. transplant
  237. tripeptidyl peptidase 1
  238. urinary glycosaminoglycans
  239. urinary protein-to-creatinine ratio
  240. velaglucerase alfa
  241. visceral involvement
  242. volumetry
  243. whole exome sequencing
  244. Wolman disease
  245. X-inactivation
  246. zinc finger nuclease