Familial hypercholesterolaemia: A global call to arms

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00209775:_____/15:#0000333

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Familial hypercholesterolaemia: A global call to arms

Popis výsledku v původním jazyce

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].

Název v anglickém jazyce

Familial hypercholesterolaemia: A global call to arms

Popis výsledku anglicky

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].

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Atherosclerosis

ISSN

0021-9150

e-ISSN

—

Svazek periodika

243

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

IE - Irsko

Počet stran výsledku

3

Strana od-do

257-259

Kód UT WoS článku

000363266000037

EID výsledku v databázi Scopus

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