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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Enregistré dans:
Détails bibliographiques
Publié dans:Ann Clin Transl Neurol
Auteurs principaux: Baker, Eva H, Levin, Sondra W, Zhang, Zhongjian, Mukherjee, Anil B
Format: Artigo
Langue:Inglês
Publié: John Wiley & Sons, Ltd 2015
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4554441/
https://ncbi.nlm.nih.gov/pubmed/26339674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.222
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