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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
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2004
2004
SLC17A5 encodes a lysosomal membrane protein, sialin, which transports sialic acid from lysosomes. Mutations in sialin result in… Expand
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2003
2003
Lysosomal free sialic acid storage diseases are rare inborn errors of metabolism with autosomal recessive inheritance that are… Expand
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2003
2003
The differential diagnosis of developmental delays and growth retardation in early childhood includes the allelic lysosomal… Expand
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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
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1999
1999
Transport of sialic acid through the lysosomal membrane is defective in the human sialic acid storage disease. The mammalian… Expand
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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
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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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