Summary
β-Hexosaminidase and acid-α-mannosidase were estimated in 17 adult patients with motor neuron disease. Normal plasma levels of β-hexosaminidase ((A+B) and A) were found in all patients studied. Plasma acid α-mannosidase levels were normal in all but two patients with the spinal muscular atrophy type of the disorder. In addition, altered biochemical properties of acid α-mannosidase (i.e.K m, thermal stability) were found in the low-activity cases.
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Michelakakis, H., Papadimitriou, A., Divaris, R. et al. Plasma lysosomal enzyme levels in patients with motor neuron disease. J Inherit Metab Dis 18, 72–74 (1995). https://doi.org/10.1007/BF00711376
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DOI: https://doi.org/10.1007/BF00711376