Ascites in infantile onset type II Sialidosis
Abstract Sialidosis is a rare autosomal‐recessive lysosomal storage disease due to mutations in the NEU1 gene leading to a deficit of alpha‐n‐acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins/peptides and oligosaccharides in the lysosomes of various organs and tissue...
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artikkeli |
| Kieli: | English |
| Julkaistu: |
Wiley
2022-07-01
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| Sarja: | JIMD Reports |
| Aiheet: | |
| Linkit: | https://doi.org/10.1002/jmd2.12305 |