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

The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce t...

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Main Authors: Stampfer, Miriam (Author) , Theiß, Susanne (Author) , Amraoui, Yasmina (Author) , Jiang, Xuntian (Author) , Keller, Sigrid (Author) , Ory, Daniel S. (Author) , Mengel, Eugen (Author) , Fischer, Christine (Author) , Runz, Heiko (Author)
Format: Article (Journal)
Language:English
Published: 2013
In: Orphanet journal of rare diseases
Year: 2013, Volume: 8, Pages: 1-11
ISSN:1750-1172
DOI:10.1186/1750-1172-8-35
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1186/1750-1172-8-35
Verlag, kostenfrei, Volltext: https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-35
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Author Notes:Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S. Ory, Eugen Mengel, Christine Fischer and Heiko Runz
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Summary:The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce the NP-C clinical database (NPC-cdb) to systematically obtain, store and analyze diagnostic and clinical findings in patients with NP-C. We apply NPC-cdb to study NP-C temporal expression in a large German-Swiss patient cohort.
Item Description:Gesehen am 15.02.2022
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/1750-1172-8-35

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