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Familial hypercholesterolaemia: A global call to arms

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F15%3A00085140" target="_blank" >RIV/00216224:14740/15:00085140 - isvavai.cz</a>

  • Alternative codes found

    RIV/00209775:_____/15:#0000333

  • Result on the web

    <a href="http://ac.els-cdn.com/S0021915015301301/1-s2.0-S0021915015301301-main.pdf?_tid=027dcd06-9e40-11e5-83c4-00000aacb361&acdnat=1449643526_89ab5894d31f4df6fd618f2c0be660c6" target="_blank" >http://ac.els-cdn.com/S0021915015301301/1-s2.0-S0021915015301301-main.pdf?_tid=027dcd06-9e40-11e5-83c4-00000aacb361&acdnat=1449643526_89ab5894d31f4df6fd618f2c0be660c6</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.atherosclerosis.2015.09.021" target="_blank" >10.1016/j.atherosclerosis.2015.09.021</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Familial hypercholesterolaemia: A global call to arms

  • Original language description

    Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDL-receptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDL-cholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1], [2] and [3]. If left untreated, the relative risk of premature coronary artery disease is significantly higher in heterozygous patients than unaffected individuals, with most untreated homozygotes developing ASCVD before the age of 20 and generally not surviving past 30 years [2], [3], [4] and [5].

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FA - Cardiovascular diseases including cardio-surgery

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2015

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Atherosclerosis

  • ISSN

    0021-9150

  • e-ISSN

  • Volume of the periodical

    243

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    IE - IRELAND

  • Number of pages

    3

  • Pages from-to

    257-259

  • UT code for WoS article

    000363266000037

  • EID of the result in the Scopus database