๐”– Bobbio Scriptorium
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Niemann-Pick disease type C: Two cases and an update

โœ Scribed by Ergun Y. Uc; David A. Wenger; Joseph Jankovic


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
35 KB
Volume
15
Category
Article
ISSN
0885-3185

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๐Ÿ“œ SIMILAR VOLUMES


The diverse neurological features of Nie
โœ R. J. Coleman; S. A. Robb; B. D. Lake; E. M. Brett; Dr. A. E. Harding ๐Ÿ“‚ Article ๐Ÿ“… 1988 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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

Spiral analysis in Niemann-Pick disease
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## Abstract Spiral analysis is a computerized method of analyzing upper limb motor physiology through the quantification of spiral drawing. The objective of this study was to determine whether spirals drawn by patients with Niemannโ€Pick disease type C (NPC) could be distinguished from those of cont

Rhythmic cortical myoclonus in Niemannโ€“P
โœ Laura Canafoglia; Marianna Bugiani; Graziella Uziel; Bernardo Dalla Bernardina; ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 117 KB

## Abstract We here describe a patient with lateโ€infantile Niemannโ€“Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) โ€“polymyographic examinations showed abnormally high and diffuse back

NPC-db, a Niemann-Pick type C disease ge
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Niemann-Pick type C (NPC) disease is a rare autosomal-recessive lysosomal storage disease typically accompanied by progressive impairment of nervous system and liver function. Biochemically, the disorder presents with an inhibited egress of cholesterol and glycosphingolipids from endosomal and lysos