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  1. Chan LY, Balasubramaniam S, Sunder R, Jamalia R, Karunakar TV, Alagaratnam J
    Med J Malaysia, 2011 Dec;66(5):497-8.
    PMID: 22390110
    We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.
    Matched MeSH terms: Hexosaminidase A/genetics
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