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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
  2. Ng CH, Lim CW, Teoh SG, Fun HK, Usman A, Ng SW
    Inorg Chem, 2002 Jan 14;41(1):2-3.
    PMID: 11782136
    Treatment of vanadium(V) oxide with an ethanol-concentrated sulfuric acid mixture, followed by the addition of an equimolar amount of beta-alanine and sodium hydroxide, and finally raising the pH to 3.9 with sodium carbonate solution, under continuous heating in a water bath and in the presence of air, leads to the polyionic sodium cyclo-[mu(6)-(sulfato-O,O',O'')tris[mu-(beta-alanine-O,O')-mu-oxo]tris(mu-hydroxo-mu-oxo)hexa[oxovanadium(V)]] sulfate tridecahydrate which crystallizes in the monoclinic P2(1)/n space group [a = 9.5192(4), b = 20.1185(9), c = 22.6174(9) A, beta = 97.011(1) degrees; Z = 4]. The crown-shaped polyoxovanadium(V) cluster cation, with carboxylate-bridging amino acid ligands, has an Anderson structure with two unique capping sulfato ligands. Its structural analysis, together with IR, UV-vis, and preliminary data on its solution properties, is presented.
    Matched MeSH terms: Hexosaminidase A
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