Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
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DOI: 10.1002/bdr2.1950
Abstract: BACKGROUND Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disorders in children, their congenital forms… read more here.
Keywords: neuronal ceroid; congenital neuronal; onset congenital; ctsd ... See more keywords