Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
BACKGROUNDTo evaluate the descriptive epidemiological information on neuronal ceroid lipofuscinoses (NCLs) in Italy, determine the spectrum of mutations in the causative genes, and analyze attainable genotype-phenotype relations.METHODSA cohort of NCL sufferers was recruited by means of CLNet, a nationwide community of youngster neurology items. Diagnosis was based mostly on scientific and pathological standards following ultrastructural …
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. Read More »