| KYSELÁK, Ondřej, Vladimír SOŠKA, Jan KOVAR, Lukas TICHY, Hana GROMBIŘÍKOVÁ, Jaroslav A. HUBACEK a Tomáš FREIBERGER. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms. Journal of Clinical Lipidology. New York: Elsevier, 2021, roč. 15, č. 3, s. 435-440. ISSN 1933-2874. Dostupné z: https://dx.doi.org/10.1016/j.jacl.2021.04.006. |
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@article{1769337,
author = {Kyselák, Ondřej and Soška, Vladimír and Kovar, Jan and Tichy, Lukas and Grombiříková, Hana and Hubacek, Jaroslav A. and Freiberger, Tomáš},
article_location = {New York},
article_number = {3},
doi = {http://dx.doi.org/10.1016/j.jacl.2021.04.006},
keywords = {Homozygous familial hypercholesterolemia; Severe hypertriglyceridemia; Combined hyperlipidemia; LDLR gene variant; Polygenic score; Delayed diagnosis},
language = {eng},
issn = {1933-2874},
journal = {Journal of Clinical Lipidology},
title = {A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms},
url = {https://www.sciencedirect.com/science/article/abs/pii/S1933287421000647#!},
volume = {15},
year = {2021}
}
TY - JOUR
ID - 1769337
AU - Kyselák, Ondřej - Soška, Vladimír - Kovar, Jan - Tichy, Lukas - Grombiříková, Hana - Hubacek, Jaroslav A. - Freiberger, Tomáš
PY - 2021
TI - A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms
JF - Journal of Clinical Lipidology
VL - 15
IS - 3
SP - 435-440
EP - 435-440
PB - Elsevier
SN - 19332874
KW - Homozygous familial hypercholesterolemia
KW - Severe hypertriglyceridemia
KW - Combined hyperlipidemia
KW - LDLR gene variant
KW - Polygenic score
KW - Delayed diagnosis
UR - https://www.sciencedirect.com/science/article/abs/pii/S1933287421000647#!
N2 - 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.
ER -
KYSELÁK, Ondřej, Vladimír SOŠKA, Jan KOVAR, Lukas TICHY, Hana GROMBIŘÍKOVÁ, Jaroslav A. HUBACEK a Tomáš FREIBERGER. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms. \textit{Journal of Clinical Lipidology}. New York: Elsevier, 2021, roč.~15, č.~3, s.~435-440. ISSN~1933-2874. Dostupné z: https://dx.doi.org/10.1016/j.jacl.2021.04.006.
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