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5 Written questions

5 Matching questions

  1. Niemann-pick disease - accumulated substrate
  2. Niemann-Pick disease - Presentation
  3. hunter's syndrome - presentation
  4. Metachromatic leukodystrophy - presentation
  5. Krabbe's disease - deficiency
  1. a Sphingomyelin
  2. b central and peripheral demyelination w/ ataxia dementia
  3. c mild hurler's + aggressive behavior, no corneal clouding
  4. d Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
  5. e galactocerebrosidase

5 Multiple choice questions

  1. AR
  2. GM2 ganglioside
  3. cerebroside sulfate
  4. AR
  5. galactocerebroside

5 True/False questions

  1. hurler's syndrome - inheritanceAR

          

  2. Tay-Sach disease - InheritanceAR

          

  3. hurler's syndrome - deficiencyalpha-L-iduronidase

          

  4. Hurler's syndrome - presentationmild hurler's + aggressive behavior, no corneal clouding

          

  5. hunter's syndrome - deficiencyalpha-L-iduronidase

          

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