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Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease.

Panagiota TsitsiIoanna MarkakiJosefine WaldthalerMaciej MachaczkaPer Svenningsson
Published in: JIMD reports (2021)
Norrbottnian GD3 patients showed a unique neurocognitive profile with low overall performance, mostly derived from low scores in attention and memory domains whereas language and visuospatial/constructional ability were relatively spared.
Keyphrases
  • working memory
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • autism spectrum disorder
  • replacement therapy
  • patient reported