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Nardo Nardocci on Muck Rack

Nardo Nardocci

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Articles

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

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By Ruth Williams, Angela Schulz, Alessandro Simonati, Nardo Nardocci, Minna Laine, Roberta Battini, Barbara Garavaglia, Francesca Moro, Francesco Pezzini, Filippo M Santorelli
| Color Research & Application Verified
To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at different time points along the disease course.
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