Screening for late-onset Pompe disease in western Denmark.

Julie Schjødtz HansenE G PedersenD GaistF W BachO J VilholmB SandalL WeitemeyerK NielsenF E SchlesingerN PreislerJ VissingH Andersen

Published in: Acta neurologica Scandinavica (2017)

None of the screened patients had a reduced activity of the enzyme alpha-glucosidase. Although the cohort studied was small, our findings do not suggest that LOPD is underdiagnosed in patients with unspecified myopathy in western Denmark.

Keyphrases

late onset
early onset
end stage renal disease
south africa
ejection fraction
newly diagnosed
peritoneal dialysis
prognostic factors
patient reported outcomes
muscular dystrophy
solid state