WORLDSymposium 2021 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. COVID-19
  33. CRISPR
  34. cross-reacting material (CRIM)
  35. cysteamine
  36. cystinosis
  37. cytokines
  38. Danon disease
  39. dendritic cells
  40. education
  41. efficacy
  42. eliglustat
  43. endochondral ossification
  44. enzyme replacement therapy (ERT)
  45. exocytosis
  46. exosomes
  47. eye findings
  48. Fabry disease
  49. Farber disease
  50. fucosidosis
  51. galactosialidosis
  52. galactosialidosis (combined neuraminidase & beta-galactosidase deficiency)
  53. galactosylceramidase
  54. gangliosidosis
  55. Gaucher disease
  56. gene editing
  57. gene therapy
  58. gene transfer
  59. genetic counseling
  60. genotype-phenotype correlation
  61. globoid cell leukodystrophy
  62. globotriaosylceramide
  63. globotriaosylsphingosine
  64. glomerular parietal epithelial cells
  65. glucocerebrosidase
  66. glucosylceramide
  67. glucosylsphingosine, lysoglucocerebroside
  68. glycogen storage disease type II
  69. glycosaminoglycans
  70. glycosphingolipids
  71. GM1-gangliosidosis
  72. GM2-gangliosidosis
  73. hematopoietic stem cell transplant (HSCT)
  74. hepcidin
  75. histone deacetylase inhibitor
  76. Hunter Outcome Survey (HOS)
  77. hyaluronidase deficiency
  78. hydrops fetalis
  79. idursulfase
  80. imiglucerase
  81. immune response
  82. immune tolerance
  83. immunology
  84. immunomodulation
  85. incidence
  86. induced pluripotent stem cells (iPSC)
  87. infantile free sialic acid storage disease (ISSD)
  88. infantile onset
  89. infertility
  90. inflammation
  91. infusion-related reaction
  92. intestinal disaccharidases
  93. intracerebroventricular (icv) administration
  94. intranasal
  95. intrathecal delivery
  96. Kanzaki disease
  97. kidney transplant
  98. kinematics
  99. Krabbe disease
  100. late-onset
  101. lectin
  102. longitudinal study
  103. lymphedema
  104. lyso-GB3
  105. lysosomal acid lipase deficiency (LALD)
  106. lysosphingolipids
  107. magnetic resonance imaging MRI)
  108. mannose
  109. mannose-6-phosphate (M6P)
  110. mass spectrometry
  111. mass spectrometry
  112. mesenchymal stem cells
  113. metachromatic leukodystrophy (MLD)
  114. methylation
  115. microglia
  116. migalastat
  117. miglustat
  118. miRNA
  119. mitochondria
  120. modifier gene
  121. mortality
  122. mouse
  123. mucolipidosis (ML)
  124. mucolipidosis I, sialidosis (ML I)
  125. mucolipidosis III, pseudo-Hurler polydystrophy (ML III)
  126. mucolipidosis IV (ML IV)
  127. mucolipidosisI II, Leroy disease, I-cell disease (MLII)
  128. mucopolysaccharidosis (MPS)
  129. mucopolysaccharidosis I (MPS I)
  130. mucopolysaccharidosis IH, Hurler syndrome (MPS IH)
  131. mucopolysaccharidosis II, Hunter syndrome (MPS II)
  132. mucopolysaccharidosis IIHS, Hurler-Scheie syndrome (MPS IHS)
  133. mucopolysaccharidosis III, Sanfilippo syndrome (MPS III)
  134. mucopolysaccharidosis IIIA, Sanfilippo syndrome type A (MPS IIIA)
  135. mucopolysaccharidosis IIIB, Sanfilippo syndrome type B (MPS IIIB)
  136. mucopolysaccharidosis IIIC, Sanfilippo syndrome type C (MPS IIIC)
  137. mucopolysaccharidosis IIID, Sanfilippo syndrome type D (MPS IIIC)
  138. mucopolysaccharidosis IS, Scheie syndrome (MPS IS)
  139. mucopolysaccharidosis IV, Morquio syndrome (MPS IV)
  140. mucopolysaccharidosis IVA, Morquio syndrome type A (MPS IVA)
  141. mucopolysaccharidosis IVB, Morquio syndrome type B (MPS IVB)
  142. mucopolysaccharidosis IX, Natowicz syndrome (MPS IX)
  143. mucopolysaccharidosis VI, Maroteaux-Lamy syndrome (MPS VI)
  144. mucopolysaccharidosis VII, Sly syndrome (MPS VII)
  145. multiple myeloma
  146. multiple sulfatase deficiency (MSD)
  147. multisensory
  148. muscle
  149. mutation
  150. mutation
  151. myeloperoxidase
  152. natural history
  153. nephropathic
  154. nephrotic syndrome
  155. neuraminidase
  156. neurodegeneration
  157. neuroimaging
  158. neuroinflammation
  159. neurological status
  160. neuromuscular diseases
  161. neuron
  162. neuronal ceroid lipofuscinoses
  163. neuronal ceroid lipofuscinosis (NCL, CLN)
  164. neuronopathic
  165. neuropathology
  166. neuropsychology
  167. neutral lipid storage disease (NLSD)
  168. newborn screening
  169. Niemann-Pick disease
  170. non-neuronopathic
  171. olipudase
  172. oral delivery
  173. osteoporosis
  174. outcomes
  175. oxidative stress
  176. pain
  177. palmitoyl protein thioesterase 1 (PPT1)
  178. pandemic
  179. Parkinson disease
  180. pathology
  181. pentosan polysulfate
  182. phagocytosis
  183. pharmacogenetics
  184. pharmacokinetics
  185. phenotype
  186. platelets
  187. podocyte
  188. Pompe disease, (glycogen storage disease type II
  189. pregnancy
  190. proteinuria
  191. proteomics
  192. pseudodeficiency
  193. psychology
  194. psychosine
  195. public health
  196. pulmonary function
  197. pycnodysostosis
  198. quality of life
  199. quantitative
  200. questionnaire
  201. recombinant enzymes
  202. recommended uniform screening panel (RUSP)
  203. registry
  204. renal
  205. reproduction
  206. retina
  207. Salla disease
  208. Sandhoff disease
  209. Schindler disease
  210. screening
  211. sebelipase alfa
  212. severity
  213. sialic acid storage disease
  214. sialidosis
  215. sleep apnea/sleep disordered breathing
  216. social media
  217. software
  218. spinal cord
  219. spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)
  220. spleen
  221. splicing
  222. stature
  223. stem cell transplantation
  224. structure
  225. substrate reduction therapy
  226. sulfamidase
  227. sulfatase modifying factor 1 (sumf1)
  228. sulfatidosis
  229. survey
  230. survival
  231. sympathetic skin response
  232. synapse
  233. synuclein
  234. T cell
  235. taliglucerase
  236. Tay-Sachs disease
  237. transforming growth factor-beta (TGF-beta)
  238. transfusion reaction
  239. transplant
  240. tripeptidyl peptidase 1
  241. urinary glycosaminoglycans
  242. urinary protein-to-creatinine ratio
  243. velaglucerase alfa
  244. visceral involvement
  245. volumetry
  246. whole exome sequencing
  247. Wolman disease
  248. X-inactivation
  249. zinc finger nuclease