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Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1

โœ Scribed by Fu, Rao; Yanjanin, Nicole M.; Elrick, Matthew J.; Ware, Christopher; Lieberman, Andrew P.; Porter, Forbes D.


Book ID
118751127
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
729 KB
Volume
158A
Category
Article
ISSN
1552-4825

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Adult onset Niemann-Pick type C disease:
โœ Carla Battisti; Patrizla Tarugi; Maria Teresa Dotti; Nicola De Stefano; Angelo V ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 238 KB

## Abstract We report on a patient with adultโ€onset Niemannโ€Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the __NPC1__ gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography