| VRABLIK, M., M. VACLOVA, Lukáš TICHÝ, Vladimír SOŠKA, V. BLAHA, Lenka FAJKUSOVÁ, R. CESKA, M. SATNY a Tomáš FREIBERGER. Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project. Physiological research. Praha: Fyziologický ústav AV ČR, 2017, roč. 66, Suppl. 1, s. "S1"-"S9", 9 s. ISSN 0862-8408. |
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@article{1396935,
author = {Vrablik, M. and Vaclova, M. and Tichý, Lukáš and Soška, Vladimír and Blaha, V. and Fajkusová, Lenka and Ceska, R. and Satny, M. and Freiberger, Tomáš},
article_location = {Praha},
article_number = {Suppl. 1},
keywords = {Familial hypercholesterolemia; LDL; cholesterol; Cascade; screening; MedPed},
language = {eng},
issn = {0862-8408},
journal = {Physiological research},
title = {Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project},
volume = {66},
year = {2017}
}
TY - JOUR
ID - 1396935
AU - Vrablik, M. - Vaclova, M. - Tichý, Lukáš - Soška, Vladimír - Blaha, V. - Fajkusová, Lenka - Ceska, R. - Satny, M. - Freiberger, Tomáš
PY - 2017
TI - Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project
JF - Physiological research
VL - 66
IS - Suppl. 1
SP - "S1"-"S9"
EP - "S1"-"S9"
PB - Fyziologický ústav AV ČR
SN - 08628408
KW - Familial hypercholesterolemia
KW - LDL
KW - cholesterol
KW - Cascade
KW - screening
KW - MedPed
N2 - Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder.It is characterized by a decrease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage.The aim of the MedPed (Make early diagnosis to Prevent early deaths) project is an early diagnosis of FH patients in order to profit from early treatment and prevent cardiovascular events.Till November 30, 2016 The Czech National MedPed Database has registered 7,001 FH patients from 5,223 different families that is 17.4 % of expected patients in the Czech Republic considering 1: 250 FH prevalence. The improvement in diagnostic accuracy, patient cooperation and above all familial cascade screening is enabled by FH mutation detection using the modern technology of next- generation sequencing.FH still remain undiagnosed even though the Czech Republic is one of the most successful countries with respect to FH detection.The opportunities of international collaboration and experience sharing within international programs (e.g.EAS FHSC, ScreenPro FH etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.
ER -
VRABLIK, M., M. VACLOVA, Lukáš TICHÝ, Vladimír SOŠKA, V. BLAHA, Lenka FAJKUSOVÁ, R. CESKA, M. SATNY a Tomáš FREIBERGER. Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project. \textit{Physiological research}. Praha: Fyziologický ústav AV ČR, 2017, roč.~66, Suppl. 1, s.~''S1''-''S9'', 9 s. ISSN~0862-8408.
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