Gaucher's disease: investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Gaucher's disease: investigations. Angiotensin converting enzyme (ACE), Ferritin. Fully referenced neurology checklist.

Biomarkers

  • Angiotensin converting enzyme (ACE)
  • Ferritin
  • Tartrate-resistant acid phosphatase
  • Chitotriosidase
  • PARC/CCL18
  • LysoGL1

Screening

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Investigations

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References

  1. Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab 2015; 12:157-164.
  2. Dumitrascu DL. Gaucher disease: an update. Med Pharm Rep 2021; 94(Suppl No 1):S54-S56.
  3. Roshan Lal T, Sidransky E. The spectrum of neurological manifestations associated with Gaucher disease. Diseases 2017; 5:10.

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