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Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

Ji Hong ParkJung Min KoMin Sun KimMan Jin KimMoon-Woo SeongTaekyeong YooByung Chan LimJong-Hee Chae
Published in: Molecular genetics & genomic medicine (2021)
We presented three Korean children, who were recently diagnosed with infantile-type TSDvia enzyme assay and genetic analysis. Furthermore, results showed that fundus examination can be helpful for early diagnosis of children with neurodevelopmental regression.
Keyphrases
  • young adults
  • gene expression
  • body mass index
  • diabetic retinopathy
  • weight gain
  • single cell