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

Medientyp: E-Artikel
Titel: Niemann-Pick disease type C clinical database : cognitive and coordination deficits are early disease indicators
Beteiligte: Stampfer, Miriam [Verfasser:in]; Theiß, Susanne [Verfasser:in]; Amraoui, Yasmina [Verfasser:in]; Jiang, Xuntian [Verfasser:in]; Keller, Sigrid [Verfasser:in]; Ory, Daniel S. [Verfasser:in]; Mengel, Eugen [Verfasser:in]; Fischer, Christine [Verfasser:in]; Runz, Heiko [Verfasser:in]
Erschienen: 2013
Erschienen in: Orphanet journal of rare diseases ; 8(2013), Artikel-ID 35, Seite 1-11
Sprache: Englisch
DOI: 10.1186/1750-1172-8-35
Identifikator:

Schlagwörter: Cholesterol ; Clinical repository ; Genotype-phenotype ; Neurodegenerative disease ; Oxysterols
Entstehung:
Anmerkungen:
Beschreibung: 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.
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