A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 <4 years.
An early-onset NP-C SI was constructed following retrospective chart revi...
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Full title
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4957867
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4957867
Other Identifiers
ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-016-0641-7
