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Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature
BACKGROUND: Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life. The most common symptoms are myoclonus, ataxia and seizure. It is rarely encountered in the Chinese mainland. CASE SUMMAR...
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| Yayımlandı: | World J Clin Cases |
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| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Baishideng Publishing Group Inc
2021
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7829734/ https://ncbi.nlm.nih.gov/pubmed/33553400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v9.i3.623 |
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