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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease...

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3649939

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

About this item

Full title

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.35-35, Article 35

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce the NP-C clinical database (NPC-cdb) to systematica...

Alternative Titles

Full title

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3649939

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3649939

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/1750-1172-8-35

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