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 a Tomáš FREIBERGER

Základní údaje

Originální název

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

Autoři

VAVERKOVA, Helena (203 Česká republika, garant), Lukas TICHY (203 Česká republika), David KARASEK (203 Česká republika) a Tomáš FREIBERGER (203 Česká republika, domácí)

Vydání

JOURNAL OF CLINICAL LIPIDOLOGY, New York, ELSEVIER SCIENCE INC, 2019, 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: 3.860

Kód RIV

RIV/00216224:14110/19:00110603

Organizační jednotka

Lékařská fakulta

DOI

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

UT WoS

000475544900010

Klíčová slova anglicky

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

Štítky

EDITORIAL, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 11. 5. 2020 09:59, Mgr. Tereza Miškechová

Anotace

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 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.

@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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