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- W3100454979 abstract "Важность неонатального скрининга болезни Гоше во многом обусловлена созданием эффективной патогенетически обоснованной терапии. Постановка диагноза строится на обнаружении снижения активности фермента бета-глюкоцереброзидазы в лейкоцитах периферической крови. 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." @default.
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- W3100454979 date "2020-07-30" @default.
- W3100454979 modified "2023-09-26" @default.
- W3100454979 title "Gaucher disease neonatal screening experience with using artificial fluorogenic substrate" @default.
- W3100454979 doi "https://doi.org/10.25557/2073-7998.2020.07.85-86" @default.
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