A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F21%3A00081164" target="_blank" >RIV/00023001:_____/21:00081164 - isvavai.cz</a>
Alternative codes found
RIV/00209775:_____/21:N0000017 RIV/00159816:_____/21:00074399 RIV/65269705:_____/21:00074399 RIV/00216224:14110/21:00121601
Result on the web
<a href="https://reader.elsevier.com/reader/sd/pii/S1933287421000647?token=AE0AA7D719A69302DAF7736C24B03170008EE6BC7C35ED11021C56845F07AB0357C5CABAB2D9719DA1479E33AB7E7048&originRegion=eu-west-1&originCreation=20210729132908" target="_blank" >https://reader.elsevier.com/reader/sd/pii/S1933287421000647?token=AE0AA7D719A69302DAF7736C24B03170008EE6BC7C35ED11021C56845F07AB0357C5CABAB2D9719DA1479E33AB7E7048&originRegion=eu-west-1&originCreation=20210729132908</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jacl.2021.04.006" target="_blank" >10.1016/j.jacl.2021.04.006</a>
Alternative languages
Result language
angličtina
Original language name
A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms
Original language description
We describe the casuistry of a homozygous familial hypercholesterolemia female patient with a biallelic missense variant (NM_000527.4:c.1775G>A, p.Gly592Glu) in the LDLR gene, severe hypertriglyceridemia and late manifestation of coronary heart disease not earlier than at the age of 45 years. An atypical phenotype led to a delayed diagnosis. (C) 2021 National Lipid Association. Published by Elsevier Inc. All rights reserved.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
<a href="/en/project/NU20-02-00261" target="_blank" >NU20-02-00261: Mechanisms of the effect of genetic variants of LDL receptor and the role of genetic variants of lipoprotein(a) in the development of hypercholesterolemia in FH patients</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of clinical lipidology
ISSN
1933-2874
e-ISSN
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Volume of the periodical
15
Issue of the periodical within the volume
3
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
435-440
UT code for WoS article
000662981800008
EID of the result in the Scopus database
2-s2.0-85105527597