Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria

@article{Ledvinov1994SialidosisTI,
  title={Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria},
  author={Jana Ledvinov{\'a} and Helena Poupětov{\'a} and Milan Elleder and Jiri Tichy and V. Pěni{\vc}kov{\'a} and Klaus Harzer},
  journal={Journal of Inherited Metabolic Disease},
  year={1994},
  volume={17},
  pages={118-119}
}
Sialidosis (McKusick 252400) is an inherited disorder caused by deficiency of lysosomal sialidase (c~-N-acetylneuraminidase, E.C. 3.2.1.18). The main storage substances in this lysosomal disorder are incompletely degraded sialylglycopeptides and sialyloligosaccharides that are excreted also in the urine (Beaudet and Thomas 1989), but not in all patients. We present the first family diagnosed in the Czech Republic using a new method for the determination of sialidase activity (Paton et al 1992… CONTINUE READING