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Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder
Sialidosis (MIM 256550) 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. This genetic alteration leads to abnormal intracellular accumulation as well as urinary excretion o...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023449/ https://www.ncbi.nlm.nih.gov/pubmed/29693572 http://dx.doi.org/10.3390/diagnostics8020029 |