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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.


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
Source: American Journal of Medical Genetics, Part B: Neuropsychiatric
DOI: 10.1002/ajmg.b.30969


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