NAME

Question types


Start with


Question limit

of 31 available terms
(1 partial duplicate found)

Print test

5 Written questions

4 Matching questions

  1. Fabry's disease - inheritance
  2. Niemann-pick disease - accumulated substrate
  3. Gaucher's disease - accumulated substrated
  4. Hurler's syndrome - presentation
  1. a XR
  2. b developmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
  3. c Sphingomyelin
  4. d Glucocerebroside

5 Multiple choice questions

  1. central and peripheral demyelination w/ ataxia dementia
  2. AR
  3. Ceramide trihexoside
  4. peripheral neuropathy, developmental delay, optic atrophy, globoid cells
  5. heparan sulfate, dermatan sulfate

5 True/False questions

  1. Tay-Sachs disease - deficiencyAR

          

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

          

  3. Gaucher's disease - deficiencygalactocerebrosidase

          

  4. Tay-Sachs disease - presentationPeripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

          

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