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5 Written questions

5 Matching questions

  1. metachromatic leukodystrophy - accumulated substrate
  2. Gaucher's disease - accumulated substrated
  3. metachromatic leukodystrophy - deficiency
  4. Fabry's disease - deficiency
  5. Metachromatic leukodystrophy - presentation
  1. a central and peripheral demyelination w/ ataxia dementia
  2. b alpha-galactosidase A
  3. c Glucocerebroside
  4. d arylsulfatase A
  5. e cerebroside sulfate

5 Multiple choice questions

  1. alpha-L-iduronidase
  2. galactocerebrosidase
  3. heparan sulfate, dermatan sulfate
  4. AR
  5. AR

5 True/False questions

  1. hunter's syndrome - presentationmild hurler's + aggressive behavior, no corneal clouding

          

  2. Niemann-Pick disease - deficiencyAR

          

  3. Niemann-pick disease - accumulated substrateGM2 ganglioside

          

  4. Tay-Sachs disease - Accumulated substrateGM2 ganglioside

          

  5. hurler's syndrome - inheritanceAR