• Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

    25 days ago - By Springer

    Abstract
    Introduction and purpose
    Neuronal ceroid lipofuscinoses is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile , late infantile , juvenile , and adult NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL.
    Material and method
    This is a descriptive cross-sectional study which was conducted in 14 patients from...
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