@article{5a645d5d42c140758d76fac4dc5b288b,
title = "R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.",
keywords = "TRIPEPTIDYL-PEPTIDASE-I, BATTEN-DISEASE, TETRAHYDROBIOPTERIN, FIBROBLASTS, METABOLISM, DIAGNOSIS, EPILEPSY, DYSTONIA, ATROPHY, LINCL",
author = "Nina Barisi{\'c} and Peter Logan and Slaven Pikija and Drago Skarpa and Nenad Blau",
year = "2003",
language = "English",
volume = "44",
pages = "489--493",
journal = "CROATIAN MEDICAL JOURNAL ",
issn = "0353-9504",
number = "4",
}