R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.

Nina Barisić, Peter Logan, Slaven Pikija (Co-author), Drago Skarpa, Nenad Blau

    Research output: Contribution to journalCase reportpeer-review

    8 Citations (Web of Science)
    Original languageEnglish
    Pages (from-to)489-493
    JournalCROATIAN MEDICAL JOURNAL
    Volume44
    Issue number4
    Publication statusPublished - 2003

    Keywords

    • TRIPEPTIDYL-PEPTIDASE-I
    • BATTEN-DISEASE
    • TETRAHYDROBIOPTERIN
    • FIBROBLASTS
    • METABOLISM
    • DIAGNOSIS
    • EPILEPSY
    • DYSTONIA
    • ATROPHY
    • LINCL

    Cite this