Associated Papers
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Panjeshahi S et al.
Human Genetics, 2023
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
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
Waliany S et al.
Human Mutation, 2000
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