Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.

@article{Harmatz2018EnzymeRT,
  title={Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.},
  author={Paul R. Harmatz and Federica Cattaneo and Diego Ardig{\`o} and Silvia Geraci and Julia B. Hennermann and Nathalie Guffon and Allan Meldgaard Lund and Christian J. Hendriksz and Line Borgwardt},
  journal={Molecular genetics and metabolism},
  year={2018},
  volume={124 2},
  pages={
          152-160
        }
}
Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme alpha-mannosidase, with a prevalence estimated to be as low as 1:1,000,000 live births. The resulting accumulation of mannose-rich oligosaccharides in all tissues leads to a very heterogeneous disorder with a continuum of clinical manifestations with no distinctive phenotypes. Long-term enzyme replacement therapy (ERT) with velmanase alfa is approved in Europe for the treatment of non… CONTINUE READING
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