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Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients
Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as a milder, late-onset type I and a severe early-ons...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957780/ https://www.ncbi.nlm.nih.gov/pubmed/31956508 http://dx.doi.org/10.1016/j.ymgmr.2019.100561 |