Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10330333" target="_blank" >RIV/00064165:_____/16:10330333 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/16:00089697 RIV/00216208:11110/16:10330333 RIV/00159816:_____/16:00066195
Result on the web
<a href="http://dx.doi.org/10.1016/j.baga.2016.02.003" target="_blank" >http://dx.doi.org/10.1016/j.baga.2016.02.003</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.baga.2016.02.003" target="_blank" >10.1016/j.baga.2016.02.003</a>
Alternative languages
Result language
angličtina
Original language name
Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C
Original language description
We present a case report of a patient with adult-onset Niemann-Pick disease type C (NPC), emphasizing an interdisciplinary approach to diagnosis and treatment. The patient is a compound heterozygote for two different mutations in the NPC1 gene, described for the first time in a Czech NPC cohort. (C) 2016 Published by Elsevier GmbH.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Basal Ganglia
ISSN
2210-5336
e-ISSN
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Volume of the periodical
6
Issue of the periodical within the volume
3
Country of publishing house
IT - ITALY
Number of pages
2
Pages from-to
121-122
UT code for WoS article
000389532300002
EID of the result in the Scopus database
2-s2.0-84960872461