Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.
Ledvinová
J
J
Center for Inherited Metabolic Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Poupĕtová
H
H
Elleder
M
M
Tichý
J
J
Pĕnicková
V
V
Harzer
K
K
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
D009844:Oligosaccharides; C016735:sialooligosaccharides; D009439:Neuraminidase