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A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

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Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged | A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

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