Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C
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]
|Collections||ANU Research Publications|
|Source:||American Journal of Medical Genetics, Part B: Neuropsychiatric|
|01_Yanjanin_Linear_clinical_progression,_2010.pdf||253.64 kB||Adobe PDF||Request a copy|
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