Gaucher disease neonatal screening experience with using artificial fluorogenic substrate
https://doi.org/10.25557/2073-7998.2020.07.85-86
Abstract
Newborn screening of Gaucher diseases is important because of the development of treatment options that improve clinical outcome. The diagnosis of Gaucher disease relies on demonstration of deficient glucocerebrosidase enzyme activity in peripheral blood leukocytes.
About the Authors
D. S. Orlov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
L. I. Didenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
L. P. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
Review
For citations:
Orlov D.S., Didenko L.I., Nazarenko L.P. Gaucher disease neonatal screening experience with using artificial fluorogenic substrate. Medical Genetics. 2020;19(7):85-86. (In Russ.) https://doi.org/10.25557/2073-7998.2020.07.85-86
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