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Evaluation of disease progression in INCL by MR spectroscopy

OBJECTIVE: Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase-1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accum...

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Detalles Bibliográficos
Autores principales: Baker, Eva H, Levin, Sondra W, Zhang, Zhongjian, Mukherjee, Anil B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554441/
https://www.ncbi.nlm.nih.gov/pubmed/26339674
http://dx.doi.org/10.1002/acn3.222