A clinical case of adult onset Niemann–Pick disease type C

A clinical case of adult onset Niemann–Pick disease type C

The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic migl...

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Bibliographic Details
Main Authors: E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin
Format: Article
Language:Russian
Published: IMA-PRESS LLC 2016-11-01
Series:Неврология, нейропсихиатрия, психосоматика
Subjects:
lysosomal storage disease
niemann–pick disease type c
vertical supranuclear gaze palsy
splenomegaly
ataxia
dystonia
dementia
mental disorders
oxysterols
molecular genetic analysist
Online Access:https://nnp.ima-press.net/nnp/article/view/649

Internet

https://nnp.ima-press.net/nnp/article/view/649

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