Results of neonatal screening for hereditary metabolic diseases in the Republic of Kazakhstan for 2019 year
https://doi.org/10.25557/2073-7998.2020.07.76-77
Abstract
Mass examination of newborns in the neonatal screening program in the Republic of Kazakhstan is carried out for 2 hereditary diseases - phenylketonuria and congenital hypothyroidism. In 2019 pilot project was conducted for 1000 studies using tandem mass spectrometry of children under age of 1 year for 49 hereditary metabolic diseases.
About the Authors
A. S. Svyatov
LLP Center of Molecular Medicine
Россия
Россия
A. V. Murtazalieva
JSC «Scientific Center of Obstetrics, Gynecology and Perinatology»
Россия
Россия
G. S. Svyatova
JSC «Scientific Center of Obstetrics, Gynecology and Perinatology»
Россия
Россия
M. S. Kirikbaeva
JSC «Scientific Center of Obstetrics, Gynecology and Perinatology»
Россия
Россия
Review
For citations:
Svyatov A.S., Murtazalieva A.V., Svyatova G.S., Kirikbaeva M.S. Results of neonatal screening for hereditary metabolic diseases in the Republic of Kazakhstan for 2019 year. Medical Genetics. 2020;19(7):76-77. (In Russ.) https://doi.org/10.25557/2073-7998.2020.07.76-77
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