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5 Written Questions

4 Matching Questions

  1. metachromatic leukodystrophy - inheritance
  2. Hurler's syndrome - presentation
  3. hunter's syndrome - inheritance
  4. Gaucher's disease - accumulated substrated
  1. a XR
  2. b AR
  3. c developmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
  4. d Glucocerebroside

5 Multiple Choice Questions

  1. cerebroside sulfate
  2. heparan sulfate, dermatan sulfate
  3. iduronate sulfatase,
  4. Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
  5. Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

5 True/False Questions

  1. metachromatic leukodystrophy - deficiencyarylsulfatase A

          

  2. Tay-Sachs disease - Accumulated substrateGM2 ganglioside

          

  3. hurler's syndrome - inheritanceAR

          

  4. Metachromatic leukodystrophy - presentationcentral and peripheral demyelination w/ ataxia dementia

          

  5. Niemann-Pick disease - deficiencySphingomyelinase

          

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