VAVERKOVA, Helena, Lukas TICHY, David KARASEK and 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, vol. 13, No 3, p. 405-410. ISSN 1933-2874. Available from: 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 and 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, vol.~13, No~3, p.~405-410. ISSN~1933-2874. Available from: https://dx.doi.org/10.1016/j.jacl.2019.02.003.
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