A case of homozygous familial hypercholesterolemia with an
atypical phenotype and delayed clinical symptoms

J 2021

A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms

KYSELÁK, Ondřej; Vladimír SOŠKA; Jan KOVAR; Lukas TICHY; Hana GROMBIŘÍKOVÁ et al.

Základní údaje

Originální název

A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms

Autoři

KYSELÁK, Ondřej; Vladimír SOŠKA; Jan KOVAR; Lukas TICHY; Hana GROMBIŘÍKOVÁ; Jaroslav A. HUBACEK a Tomáš FREIBERGER

Vydání

Journal of Clinical Lipidology, New York, Elsevier, 2021, 1933-2874

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30104 Pharmacology and pharmacy

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 5.365

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/21:00121601

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Homozygous familial hypercholesterolemia; Severe hypertriglyceridemia; Combined hyperlipidemia; LDLR gene variant; Polygenic score; Delayed diagnosis

Štítky

14110114, 14110616, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 29. 3. 2022 09:35, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

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://doi.org/10.1016/j.jacl.2021.04.006.

@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 = {https://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://doi.org/10.1016/j.jacl.2021.04.006.

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