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Type C Niemann-Pick disease: Clinical and biochemical studies on 6 cases

✍ Scribed by Omura, Kiyoshi; Suzuki, Yoshiyuki; Norose, Noboru; Sato, Mitsuyoshi; Maruyama, Keiko; Koeda, Tatsuya


Book ID
123090041
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
487 KB
Volume
11
Category
Article
ISSN
0387-7604

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Adult onset Niemann-Pick type C disease:
✍ Carla Battisti; Patrizla Tarugi; Maria Teresa Dotti; Nicola De Stefano; Angelo V πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 238 KB

## Abstract We report on a patient with adult‐onset Niemann‐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