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Sialuria

Known as: Salla Disease, Sialic Acid Storage Disease, Sialic Acid Storage Disease [Disease/Finding] 
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N… 
National Institutes of Health

Papers overview

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2009
2009
Salla disease and infantile sialic acid storage disease are autosomal recessive lysosomal storage disorders caused by mutations… 
Highly Cited
2006
Highly Cited
2006
The female predominance in meningioma incidence and association between meningioma and breast cancer suggest that growth of… 
Highly Cited
2004
Highly Cited
2004
The modification of cell surface lipids or proteins with sialic acid is essential for many biological processes and several… 
Review
1999
Review
1999
In recent years there has been an increased recognition that hydrops fetalis may be an extreme presentation of many of the… 
Review
1999
Review
1999
Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane… 
1994
1994
Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder… 
Highly Cited
1991
Highly Cited
1991
Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc… 
Highly Cited
1989
Highly Cited
1989
Egress of free NeuAc from normal lysosome-rich granular fractions was assessed at NeuAc concentrations of up to 221 pmol… 
1982
1982
Contact observations and most radiometric datings indicate that the large complex of granitoid rocks and migmatites in Central…