Assessment of Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis Using Multiparametric MR Imaging

BACKGROUND AND PURPOSE: LINCL is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene that encodes for tripeptidyl peptidase 1, a lysosomal enzyme necessary for the degradation of products of cellular metabolism. With the goal of developing quantitative noninvasive i...

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Hlavní autoři: Dyke, J.P., Sondhi, D., Voss, H.U., Shungu, D.C., Mao, X., Yohay, K., Worgall, S., Hackett, N.R., Hollmann, C., Yeotsas, M.E., Jeong, A.L., Van de Graaf, B., Cao, I., Kaminsky, S.M., Heier, L.A., Rudser, K.D., Souweidane, M.M., Kaplitt, M.G., Kosofsky, B., Crystal, R.G., Ballon, D.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Neuroradiology 2013
Témata:
Pediatrics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3644851/
https://ncbi.nlm.nih.gov/pubmed/23042927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3174/ajnr.A3297
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