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dc.contributor.authorPatterson, MC
dc.contributor.authorClayton, P
dc.contributor.authorGissen, P
dc.contributor.authorAnheim, M
dc.contributor.authorBauer, P
dc.contributor.authorBonnot, O
dc.contributor.authorDardis, A
dc.contributor.authorDionisi-Vici, C
dc.contributor.authorKluenemann, H-H
dc.contributor.authorLatour, P
dc.contributor.authorLourenco, CM
dc.contributor.authorOry, DS
dc.contributor.authorParker, A
dc.contributor.authorPocovi, M
dc.contributor.authorStrupp, M
dc.contributor.authorVanier, MT
dc.contributor.authorWalterfang, M
dc.contributor.authorMarquardt, T
dc.date.accessioned2020-12-18T03:31:20Z
dc.date.available2020-12-18T03:31:20Z
dc.date.issued2017-12-01
dc.identifierpii: NEURCLINPRACT2017021501
dc.identifier.citationPatterson, M. C., Clayton, P., Gissen, P., Anheim, M., Bauer, P., Bonnot, O., Dardis, A., Dionisi-Vici, C., Kluenemann, H. -H., Latour, P., Lourenco, C. M., Ory, D. S., Parker, A., Pocovi, M., Strupp, M., Vanier, M. T., Walterfang, M. & Marquardt, T. (2017). Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update. NEUROLOGY-CLINICAL PRACTICE, 7 (6), pp.499-511. https://doi.org/10.1212/CPJ.0000000000000399.
dc.identifier.issn2163-0402
dc.identifier.urihttp://hdl.handle.net/11343/255804
dc.description.abstractPurpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. Recent findings: New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C. Most diagnoses can now be confirmed by combination of biomarker and genetic analyses. Filipin staining may facilitate diagnosis in uncertain cases. Recommendations are provided for psychiatrists, neuro-ophthalmologists, and radiologists, and on screening within specific at-risk patient cohorts. The NP-C diagnostic algorithm has been updated and simplified. Summary: This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists.
dc.languageEnglish
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.titleRecommendations for the detection and diagnosis of Niemann-Pick disease type C An update
dc.typeJournal Article
dc.identifier.doi10.1212/CPJ.0000000000000399
melbourne.affiliation.departmentPsychiatry
melbourne.source.titleNeurology: Clinical Practice
melbourne.source.volume7
melbourne.source.issue6
melbourne.source.pages499-511
dc.rights.licenseCC BY-NC-ND
melbourne.elementsid1305682
melbourne.contributor.authorWalterfang, Mark
dc.identifier.eissn2163-0933
melbourne.accessrightsOpen Access


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