Skip navigation
Skip navigation

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

Yanjanin, N.M.; Velez, JI; Gropman, A.; King, K.; Bianconi,, S.E.; Conley, S.K.; Brewer, C.C.; Solomon, B.; Pavan, W.J.; Arcos-Burgos, Mauricio (Oscar); Patterson, M.C.; Porter, F.D.

Description

Niemann-Pick disease, type C is a neurodegenerative, lysosomal storage disorder with a broad clinical spectrumand a variable age of onset. The absence of a universally accepted clinical outcome measure is an impediment to the design of a therapeutic trial for NPC. Thus, we developed a clinical severity scale to characterize and quantify disease progression. Clinical signs and symptomsin nine major (ambulation, cognition, eye movement, fine motor, hearing, memory, seizures, speech, and...[Show more]

CollectionsANU Research Publications
Date published: 2010
Type: Journal article
URI: http://hdl.handle.net/1885/79068
Source: American Journal of Medical Genetics, Part B: Neuropsychiatric
DOI: 10.1002/ajmg.b.30969

Download

File Description SizeFormat Image
01_Yanjanin_Linear_clinical_progression,_2010.pdf253.64 kBAdobe PDF    Request a copy


Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  23 August 2018/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator