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 e...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2018-04-01
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| Series: | Diagnostics |
| Subjects: | |
| Online Access: | http://www.mdpi.com/2075-4418/8/2/29 |