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Open Access 01-09-2014 | Introduction

Niemann–Pick disease type C: introduction and main clinical features

Author: A. Burlina

Published in: Journal of Neurology | Special Issue 2/2014

Excerpt

Niemann–Pick type C (NP-C) is a rare neurodegenerative lysosomal storage disorder with autosomal recessive inheritance that can present during infancy, childhood or adulthood [4, 5, 9]. The highly heterogeneous clinical presentation of NP-C makes diagnosis particularly difficult, and as a consequence, the disease may go undetected or be misdiagnosed. The true prevalence of NP-C is therefore difficult to measure, but it has been estimated at 1 case in every 120,000 live births [9]. …

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Title: Niemann–Pick disease type C: introduction and main clinical features
Author: A. Burlina
Publication date: 01-09-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue Special Issue 2/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-014-7382-z

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