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Sialidase deficiency
Known as:
Neu Deficiency
, NEUG DEFICIENCY
, Neuraminidase deficiency
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National Institutes of Health
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Related topics
Related topics
3 relations
Autosomal recessive inheritance
Type I Mucolipidosis
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Neuraminidase 1 deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency.
M. Champigny
,
M. Mitchell
,
A. Fox-Robichaud
,
B. Trigatti
,
Suleiman A. Igdoura
Molecular Genetics and Metabolism
2009
Corpus ID: 17211325
2006
2006
Th-W60:6 Tissue-specific sialidase deficiency protects against atherosclerosis in experimental animals
A. Yang
,
V. Tedesco
,
H. Kufaishi
,
B. Trigatti
,
Suleiman A. Igdoura
2006
Corpus ID: 72249563
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
G. Thomas
,
R. Tipton
,
L. Ch'ien
,
L. Reynolds
,
C. Miller
Clinical Genetics
1978
Corpus ID: 24045447
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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