Farber disease: management

Evidence-based neurology checklist on farber disease: management: Investigations Ceramidase level Genetics Histopathology Treatment

Investigations

  • Ceramidase level
  • Genetics
  • Histopathology

Treatment

References

  1. Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
  2. Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta 2006; 1758:2057-2079.
  3. Ehlert K, Frosch M, Fehse N, Zander A, Roth J, Vormoor J. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 2007; 5:15.
  4. Ekici B, Kürkçü D, Caliskan M. Farber disease: A clinical diagnosis. J Pediatr Neurosci 2012; 7:154-155. 

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