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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

Related topics

Related topics

24 relations
2-3 toe cutaneous syndactylyAttention Deficit DisorderAutosomal dominant inheritanceByzanthine arch palate

Narrower (4)

Free sialic acid storage diseaseInfantile Sialic Acid Storage DiseaseN-Acetylneuraminic acid storage diseaseSialic Acid Storage Disease, Finnish Type (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
The Lysosomal Sialic Acid Transporter Sialin Is Required for Normal CNS Myelination
Salla disease and infantile sialic acid storage disease are autosomal recessive lysosomal storage disorders caused by mutations… 
Highly Cited
2006
Highly Cited
2006
Female predominance in meningiomas can not be explained by differences in progesterone, estrogen, or androgen receptor expression
The female predominance in meningioma incidence and association between meningioma and breast cancer suggest that growth of… 
Highly Cited
2004
Highly Cited
2004
Functional characterization of wild‐type and mutant human sialin
The modification of cell surface lipids or proteins with sialic acid is essential for many biological processes and several… 
2004
2004
Sialin expression in the CNS implicates extralysosomal function in neurons
2004
2004
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.
BACKGROUND Sialic acid storage diseases (SSDs) are severe autosomal recessive neurodegenerative disorders caused by a transport… 
Review
1999
Review
1999
Hydrops fetalis: lysosomal storage disorders in extremis.
Review
1999
Review
1999
Clinical spectrum of infantile free sialic acid storage disease.
Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane… 
Highly Cited
1991
Highly Cited
1991
Sialic acid metabolism in sialuria fibroblasts.
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
Identification of the metabolic defect in sialuria.
Sialuria is a rare inborn error of metabolism, the hallmarks of which are moderate developmental retardation, coarse facial… 
1982
1982
On the ages of some granitoid and schist complexes in northern Finland
Contact observations and most radiometric datings indicate that the large complex of granitoid rocks and migmatites in Central… 
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