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5 Written questions

5 Matching questions

  1. metachromatic leukodystrophy - accumulated substrate
  2. Fabry's disease - Accumulated substrate
  3. Krabbe's disease - deficiency
  4. Gaucher's disease - deficiency
  5. Niemann-pick disease - accumulated substrate
  1. a galactocerebrosidase
  2. b Sphingomyelin
  3. c cerebroside sulfate
  4. d Ceramide trihexoside
  5. e beta - glucocerebrosidase

5 Multiple choice questions

  1. alpha-galactosidase A
  2. AR
  3. AR
  4. GM2 ganglioside
  5. AR

5 True/False questions

  1. Niemann-Pick disease - PresentationProgressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin

          

  2. Krabbe's disease - accumulated substrategalactocerebroside

          

  3. hunter's syndrome - deficiencyiduronate sulfatase,

          

  4. Metachromatic leukodystrophy - presentationAR

          

  5. hurler's syndrome - accumulated substrateGlucocerebroside