Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C

• Hauptverfasser: Ali A. Mohamed (VerfasserIn), Willy Gan (VerfasserIn), Denis Babici (VerfasserIn), Veronica Hagan (VerfasserIn), Raphael Wald (VerfasserIn), Marc Swerdloff (VerfasserIn)
• Format: Buch
• Veröffentlicht: MDPI AG, 2024-05-01T00:00:00Z.
• Schlagworte: article
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(1) Background: Niemann-Pick type C1 (NP-C1) is a lysosomal storage disorder that results in the defective trafficking of cholesterol and other cellular lipids in the endosomal-lysosomal pathway. This rare autosomal recessive disorder presents in three forms based on the age of onset. The adult form...