A case of autosomal recessive hypercholesterolemia caused by a
new variant in the LDL receptor adaptor protein 1 gene

J 2019

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene

VAVERKOVA, Helena, Lukas TICHY, David KARASEK and Tomáš FREIBERGER

Basic information

Original name

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene

Authors

VAVERKOVA, Helena (203 Czech Republic, guarantor), Lukas TICHY (203 Czech Republic), David KARASEK (203 Czech Republic) and Tomáš FREIBERGER (203 Czech Republic, belonging to the institution)

Edition

JOURNAL OF CLINICAL LIPIDOLOGY, New York, ELSEVIER SCIENCE INC, 2019, 1933-2874

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30104 Pharmacology and pharmacy

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.860

RIV identification code

RIV/00216224:14110/19:00110603

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.jacl.2019.02.003

UT WoS

000475544900010

Keywords in English

Autosomal recessive hypercholesterolemia; LDLRAP1; Clinical phenotype; Hypercholesterolemia; Lipid lowering therapy; Statins; Ezetimibe; LDL apheresis; PCSK9 inhibitors

Abstract

V originále

We report a new variant in the LDLRAP1 gene associated with autosomal recessive hyper-cholesterolemia in a woman of central European ancestry.

Citovat

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.

@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.

Detailed Information on Publication Record