KYSELÁK, Ondřej, Vladimír SOŠKA, Jan KOVAR, Lukas TICHY, Hana GROMBIŘÍKOVÁ, Jaroslav A. HUBACEK and Tomáš FREIBERGER. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms. Journal of Clinical Lipidology. New York: Elsevier, 2021, vol. 15, No 3, p. 435-440. ISSN 1933-2874. Available from: 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 and 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, vol.~15, No~3, p.~435-440. ISSN~1933-2874. Available from: https://dx.doi.org/10.1016/j.jacl.2021.04.006.
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