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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Figure 1

Diagnostic findings in studied NP-C patient cohort (n=42).* NP-C Suspicion Index (acc. to Wijburg et al., 2012): <40, NP-C unlikely; 40-69, NP-C follow up advised; ≥70, NP-C likely; na, not available; NAD, nothing abnormal detected; cl., classic; var., variant; indiff., indifferent; Cys-rich, cystein-rich loop (aa 855-1098); SSD, sterol sensing domain (aa 615-797), normal range: 3β,5α,6β-triol: 29-152; 7-KC: 78-390.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172