title: Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.
authors.affiliation: Center for Inherited Metabolic Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Ledvinová
authors.forename: H
authors.initials: H
authors.lastname: Poupĕtová
authors.forename: M
authors.initials: M
authors.lastname: Elleder
authors.forename: J
authors.initials: J
authors.lastname: Tichý
authors.forename: V
authors.initials: V
authors.lastname: Pĕnicková
authors.forename: K
authors.initials: K
authors.lastname: Harzer
mesh_terms: D000293:Adolescent; D000328:Adult; D018153:Czech Republic; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008099:Liver / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000150:complications / Q000235:genetics* / Q000652:urine; D008297:Male; D009207:Myoclonus / Q000150:complications*; D009410:Nerve Degeneration; D009422:Nervous System Diseases / Q000150:complications; D009439:Neuraminidase / Q000172:deficiency* / Q000378:metabolism; D009844:Oligosaccharides / Q000652:urine*; D012867:Skin / Q000473:pathology
chemical_list: D009844:Oligosaccharides; C016735:sialooligosaccharides; D009439:Neuraminidase