| VAVERKOVA, Helena, Lukas TICHY, David KARASEK a Tomáš FREIBERGER. A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene. JOURNAL OF CLINICAL LIPIDOLOGY. New York: ELSEVIER SCIENCE INC, 2019, roč. 13, č. 3, s. 405-410. ISSN 1933-2874. Dostupné z: https://dx.doi.org/10.1016/j.jacl.2019.02.003. |
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@article{1553884,
author = {Vaverkova, Helena and Tichy, Lukas and Karasek, David and Freiberger, Tomáš},
article_location = {New York},
article_number = {3},
doi = {http://dx.doi.org/10.1016/j.jacl.2019.02.003},
keywords = {Autosomal recessive hypercholesterolemia; LDLRAP1; Clinical phenotype; Hypercholesterolemia; Lipid lowering therapy; Statins; Ezetimibe; LDL apheresis; PCSK9 inhibitors},
language = {eng},
issn = {1933-2874},
journal = {JOURNAL OF CLINICAL LIPIDOLOGY},
note = {Editorial},
title = {A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene},
url = {https://www.sciencedirect.com/science/article/pii/S1933287419300388},
volume = {13},
year = {2019}
}
TY - JOUR
ID - 1553884
AU - Vaverkova, Helena - Tichy, Lukas - Karasek, David - Freiberger, Tomáš
PY - 2019
TI - A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene
JF - JOURNAL OF CLINICAL LIPIDOLOGY
VL - 13
IS - 3
SP - 405-410
EP - 405-410
PB - ELSEVIER SCIENCE INC
SN - 19332874
N1 - Editorial
KW - Autosomal recessive hypercholesterolemia
KW - LDLRAP1
KW - Clinical phenotype
KW - Hypercholesterolemia
KW - Lipid lowering therapy
KW - Statins
KW - Ezetimibe
KW - LDL apheresis
KW - PCSK9 inhibitors
UR - https://www.sciencedirect.com/science/article/pii/S1933287419300388
L2 - https://www.sciencedirect.com/science/article/pii/S1933287419300388
N2 - We report a new variant in the LDLRAP1 gene associated with autosomal recessive hyper-cholesterolemia in a woman of central European ancestry.
ER -
VAVERKOVA, Helena, Lukas TICHY, David KARASEK a Tomáš FREIBERGER. A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene. \textit{JOURNAL OF CLINICAL LIPIDOLOGY}. New York: ELSEVIER SCIENCE INC, 2019, roč.~13, č.~3, s.~405-410. ISSN~1933-2874. Dostupné z: https://dx.doi.org/10.1016/j.jacl.2019.02.003.
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