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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… Expand
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… Expand
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Highly Cited
2006
Highly Cited
2006
The female predominance in meningioma incidence and association between meningioma and breast cancer suggest that growth of… Expand
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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… Expand
2004
2004
SLC17A5 encodes a lysosomal membrane protein, sialin, which transports sialic acid from lysosomes. Mutations in sialin result in… Expand
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… Expand
Review
1999
Review
1999
Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane… Expand
1994
1994
Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder… Expand
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… Expand
Highly Cited
1983
Highly Cited
1983
Salla disease is a lysosomal storage disorder associated with increased urinary excretion of free sialic acid. The main clinical… Expand
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1982
1982
Contact observations and most radiometric datings indicate that the large complex of granitoid rocks and migmatites in Central… Expand
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