| BARTL, Jiří, Petr CHRASTINA, David FRIEDECKÝ, Eva HLÍDKOVÁ, Renata PINKASOVÁ, Hana VLÁŠKOVÁ, Karolína PEŠKOVÁ, Renata PAZDÍRKOVÁ, Dagmar PROCHÁZKOVÁ, Pavel JEŠINA, Zuzana HRUBÁ, Tomáš ADAM and Viktor KOŽICH. Five years of newborn screening of inherited metabolic disorders in the Czech Republic. In Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, JIMD, 2015, 38, Supl. 1, s.83. 2015. ISSN 0141-8955. |
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@proceedings{1309219,
author = {Bartl, Jiří and Chrastina, Petr and Friedecký, David and Hlídková, Eva and Pinkasová, Renata and Vlášková, Hana and Pešková, Karolína and Pazdírková, Renata and Procházková, Dagmar and Ješina, Pavel and Hrubá, Zuzana and Adam, Tomáš and Kožich, Viktor},
booktitle = {Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, JIMD, 2015, 38, Supl. 1, s.83},
keywords = {screening inborn errors of metabolism},
language = {eng},
title = {Five years of newborn screening of inherited metabolic disorders in the Czech Republic},
url = {http://springer.com},
year = {2015}
}
TY - CONF
ID - 1309219
AU - Bartl, Jiří - Chrastina, Petr - Friedecký, David - Hlídková, Eva - Pinkasová, Renata - Vlášková, Hana - Pešková, Karolína - Pazdírková, Renata - Procházková, Dagmar - Ješina, Pavel - Hrubá, Zuzana - Adam, Tomáš - Kožich, Viktor
PY - 2015
TI - Five years of newborn screening of inherited metabolic disorders in the Czech Republic
KW - screening inborn errors of metabolism
UR - http://springer.com
N2 - The results are in agreement with Region4Screening target performance.Nevertheless, our laboratory algorithms are still being optimized in order to reduce number of false positive cases. Nowadays, we propose to extend the newborn screening panel from 10 to 15 IMDs, by adding citrullinemia type I, argininemia, CBS/methylenetetrahydrofolate reductase deficiency and biotinidase deficiency. Other 10 IMDs could be detected secondarily.
ER -
BARTL, Jiří, Petr CHRASTINA, David FRIEDECKÝ, Eva HLÍDKOVÁ, Renata PINKASOVÁ, Hana VLÁŠKOVÁ, Karolína PEŠKOVÁ, Renata PAZDÍRKOVÁ, Dagmar PROCHÁZKOVÁ, Pavel JEŠINA, Zuzana HRUBÁ, Tomáš ADAM and Viktor KOŽICH. Five years of newborn screening of inherited metabolic disorders in the Czech Republic. In \textit{Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, JIMD, 2015, 38, Supl. 1, s.83}. 2015. ISSN~0141-8955.
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