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Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria
J. Ledvinova, H. Poupetova, M. Elleder
Journal of inherited metabolic disease.
1994 ;
Roč. 17 (č. 1) :
s. 118-119.
Language English Country Netherlands
Document type Case Reports
Persistent link
https://www.medvik.cz/link/bmc95001751
Grant support
PL226
MZ0
CEP Register
IZ560
MZ0
CEP Register
Digital library NLK
Full text - Část
Full text - Část
Source
Source
- MeSH
- Nerve Degeneration MeSH
- Adult MeSH
- Fibroblasts enzymology MeSH
- Liver pathology MeSH
- Humans MeSH
- Adolescent MeSH
- Myoclonus complications MeSH
- Neuraminidase metabolism deficiency MeSH
- Oligosaccharides urine MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
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