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5 Written questions

4 Matching questions

  1. Niemann-pick disease - accumulated substrate
  2. Fabry's disease - deficiency
  3. Krabbe's disease - deficiency
  4. Gaucher's disease - Inheritance
  1. a galactocerebrosidase
  2. b AR
  3. c Sphingomyelin
  4. d alpha-galactosidase A

5 Multiple choice questions

  1. cerebroside sulfate
  2. Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
  3. Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
  4. Most common; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)
  5. Hexosaminidase A

5 True/False questions

  1. Gaucher's disease - accumulated substratedGlucocerebroside

          

  2. Niemann-Pick disease - inheritanceAR

          

  3. Fabry's disease - Accumulated substrategalactocerebroside

          

  4. Niemann-Pick disease - deficiencyAR

          

  5. Krabbe's disease - accumulated substrategalactocerebroside

          

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