cerebrotendinous xanthomatosis

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Epidemiology

rare

Pathology

Genetics

Clinical manifestations

Management

More general terms

Additional terms

References

  1. Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 210
  2. OMIM https://mirror.omim.org/entry/213700
  3. UniProt http://www.uniprot.org/uniprot/Q02318.html
  4. Jump up to: 4.0 4.1 4.2 4.3 Lou N FDA Approves First Drug for Rare Lipid Storage Disorder. Chenodiol has long been used off-label for cerebrotendinous xanthomatosis. MedPage Today February 21, 2025 https://www.medpagetoday.com/publichealthpolicy/fdageneral/114332

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