Mucolipidosis I/II/III in Taiwan

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Lai SC, Chen RS, Wu Chou YH, Chang HC, Kao LY, Huang YZ, et al. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome. Eur J Neurol 2009;16:912-9. https://doi.org/10.1111/j.1468-1331.2009.02622.x
Ma GC, Ke YY, Chang SP, Lee DJ, Chen M. A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. Am J Med Genet A 2011;155A:931-4.
Chen HH, Lan JL, Shu SG, Chen DY, Lan HH. A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. J Formos Med Assoc 2004;103:715-20.