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
Neonatal-onset Congenital Ectropion Uveae: a distinct phenotype of Newborn glaucoma.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2020.10.001
Abstract: PURPOSE To describe "neonatal-onset congenital ectropion uveae (N-CEU)" as a distinct clinical entity of newborn glaucoma (NG), and study its significance towards the severity and outcome of NG. DESIGN Prospective clinical cohort study METHODS: Setting:… read more here.
Keywords: onset; neonatal onset; glaucoma; congenital ectropion ... See more keywords