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A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene
Sialidosis is a rare, autosomal recessive inherited disorder caused by α-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1), located on 6p21.33. A definitive diagnosis is made after the identification of a mutation in the NEU1 gene. An association exists bet...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752412/ https://www.ncbi.nlm.nih.gov/pubmed/35036219 http://dx.doi.org/10.7759/cureus.20389 |