𝔖 Bobbio Scriptorium
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S48.B Is cataplexy a really frequent symptom of Niemann–Pick disease (type C)?

✍ Scribed by S. Nevsimalova; D. Kemlink; L. Koumarova; I. Prihodova; A. Tauberova

Book ID
117775538
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
45 KB
Volume
8
Category
Article
ISSN
1389-9457

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✍ R. J. Coleman; S. A. Robb; B. D. Lake; E. M. Brett; Dr. A. E. Harding 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 328 KB

Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, wh