Five years of newborn screening of inherited metabolic
disorders in the Czech Republic

a 2015

Five years of newborn screening of inherited metabolic disorders in the Czech Republic

BARTL, Jiří, Petr CHRASTINA, David FRIEDECKÝ, Eva HLÍDKOVÁ, Renata PINKASOVÁ et. al.

Basic information

Original name

Five years of newborn screening of inherited metabolic disorders in the Czech Republic

Authors

Edition

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, JIMD, 2015, 38, Supl. 1, s.83, 2015

Other information

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

30209 Paediatrics

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.541

Organization unit

Faculty of Medicine

ISSN

Keywords (in Czech)

screening dědičné poruchy metabolizmu

Keywords in English

screening inborn errors of metabolism

Změněno: 28/8/2015 09:58, doc. MUDr. Dagmar Procházková, Ph.D.

Abstract

ORIG CZ

V originále

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.

In Czech

Autoři popisují výsledky screeningu dědičných poruch metabolizmu V České republice v posledních pěti letech.

Citovat

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.

@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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