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Table 1 Case profiles: Patients Diagnose, Clinical Symptoms and Orexin Measurements

From: Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat

  1. *This patient was considered to be diagnosed with NPC at early infantile, however compared with other parents, she survived well without neurological symptoms until her late twenties
  2. Cases 6–10 are treated with miglustat, indicated by the gray background
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172