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 spectrum and 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 seve...

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Hoofdauteurs: Yanjanin, Nicole M., Vélez, Jorge I., Gropman, Andrea, King, Kelly, Bianconi, Simona E., Conley, Sandra K., Brewer, Carmen C., Solomon, Beth, Pavan, William J., Arcos-Burgos, Mauricio, Patterson, Marc C., Porter, Forbes D.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2010
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2798912/
https://ncbi.nlm.nih.gov/pubmed/19415691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.30969
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