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Sialidase deficiency

Known as: Neu Deficiency, NEUG DEFICIENCY, Neuraminidase deficiency 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritanceType I Mucolipidosis

Narrower (1)

Neuraminidase 1 deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Diagnostics and Therapy of Human Diseases - Focus on Sialidases.
Sialic acid residues that make part of the cell surface repertoire of carbohydrate residues are implicated in various… 
2009
2009
A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency.
2006
2006
Th-W60:6 Tissue-specific sialidase deficiency protects against atherosclerosis in experimental animals
Highly Cited
1978
Highly Cited
1978
Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia
A 31‐year‐old male is described who has macular cherry‐red spots, increased deep tendon reflexes and myoclonus without dementia… 
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