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5 Written questions

5 Matching questions

  1. Fabry's disease - Accumulated substrate
  2. Tay-Sachs disease - presentation
  3. hurler's syndrome - deficiency
  4. metachromatic leukodystrophy - inheritance
  5. Hurler's syndrome - presentation
  1. a Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
  2. b developmental dealy, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
  3. c AR
  4. d Ceramide trihexoside
  5. e alpha-L-iduronidase

5 Multiple choice questions

  1. Hexosaminidase A
  2. iduronate sulfatase,
  3. beta - glucocerebrosidase
  4. heparan sulfate, dermatan sulfate
  5. Glucocerebroside

5 True/False questions

  1. Niemann-Pick disease - deficiencySphingomyelinase

          

  2. Niemann-Pick disease - inheritanceSphingomyelinase

          

  3. Tay-Sach disease - InheritanceAR

          

  4. Krabbe's disease - presentationperipheral neuropathy, developmental delay, optic atrophy, globoid cells

          

  5. Krabbe's disease - deficiencyalpha-galactosidase A

          

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