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Therapeutic approaches for the treatment of Infantile Neuronal Ceroid Lipofuscinosis (INCL)

✍ Scribed by Shannon Macauley; Marie Roberts; Sarah Hohms; Adarsh Reddy; Jonathon Cooper; Mark Sands

Book ID: 116989187
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 60 KB
Volume: 102
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2010.11.090

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Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel