Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F14%3A10285451" target="_blank" >RIV/00064165:_____/14:10285451 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/14:10285451

Result on the web

<a href="http://dx.doi.org/10.1186/s13023-014-0140-6" target="_blank" >http://dx.doi.org/10.1186/s13023-014-0140-6</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s13023-014-0140-6" target="_blank" >10.1186/s13023-014-0140-6</a>

Result language

angličtina

Original language name

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

Original language description

Background: Niemann-Pick disease type C (NPC) is a rare, fatal neurovisceral disorder with autosomal recessive inheritance, and featuring striking clinical variability dependent on the age at onset of neurological symptoms. We report data from a large cohort of 56 Czech patients with NPC diagnosed over a period of 37 years. Methods: An observational, retrospective analysis of historic and current clinical and laboratory information was performed among all NPC patients originating from the area of the contemporary Czech Republic and diagnosed between 1975 and 2012. The data obtained demonstrate the evolution of the diagnostic process in NPC over the last four decades. We estimate the contemporary birth prevalence of NPC in the Czech Republic at 0.93 per100,000.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

<a href="/en/project/NT12239" target="_blank" >NT12239: Niemann-Pick disease type C : clinical, molecular genetic, biochemical and morphological study. Development of new diagnostic and predictive algorithms</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

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Volume of the periodical

9

Issue of the periodical within the volume

september

Country of publishing house

GB - UNITED KINGDOM

Number of pages

16

Pages from-to

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UT code for WoS article

000345662200001

EID of the result in the Scopus database

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