Associated Papers
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM et al.
Orphanet Journal of Rare Diseases, 2013
23374165 (PubMed )
Supplement: 1750-1172-8-19-S1.xls › Foglio1
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Steinfeld R et al.
Human Molecular Genetics, 2004
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
Steinfeld R et al.
American Journal of Medical Genetics, 2002
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
Zhong N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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