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… (More)
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… (More)
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2009
2009
We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of… (More)
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2006
2006
The female predominance in meningioma incidence and association between meningioma and breast cancer suggest that growth of… (More)
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2004
2004
The modification of cell surface lipids or proteins with sialic acid is essential for many biological processes and several… (More)
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2004
2004
SLC17A5 encodes a lysosomal membrane protein, sialin, which transports sialic acid from lysosomes. Mutations in sialin result in… (More)
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2001
2001
Sialuria is a rare inborn error of metabolism in which excessive free sialic acid (N-acetylneuraminic acid, NeuAc) is synthesized… (More)
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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… (More)
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1991
1991
Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc… (More)
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1989
1989
Sialuria is a rare inborn error of metabolism, the hallmarks of which are moderate developmental retardation, coarse facial… (More)
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1983
1983
Salla disease is a lysosomal storage disorder associated with increased urinary excretion of free sialic acid. The main clinical… (More)
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