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Exam questionKROK 1Medicine ยท 2016

A 3-year-old girl with mental retardation has been diagnosed with sphingomyelin lipidosis (Niemann-Pick disease). In this condition synthesis of the following substance is disrupted:

Answer options

  1. Ceramides
  2. Sphingosine
  3. Gangliosides
  4. Glycosyltransferase
  5. Sphingomyelinase
Correct answer

Sphingomyelinase

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