Sialic Acid Storage Disease, Finnish Type (disorder)

Known as: Sialuria, Finnish Type, Sialic Acid Storage Disease, Finnish Type, Salla Disease 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1967-2017
0519672017

Papers overview

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2011
2011
Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD… (More)
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2011
2011
Therapeutic glycoproteins with exposed galactose (Gal) residues are cleared rapidly from the bloodstream by asialoglycoprotein… (More)
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2007
2007
Sialylation (e.g. expression of sialic acid) plays a crucial role for function and stability of most glycoproteins. The key… (More)
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2005
2005
Sialic acids are expressed as terminal sugars in many glycoconjugates and play an important role during development and… (More)
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2002
2002
AbstractThis is the first report on mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) in… (More)
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2001
2001
"French type" sialuria, a presumably dominant disorder that, until now, had been documented in only five patients, manifests with… (More)
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2001
2001
Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited… (More)
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1999
1999
Sialuria is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free N… (More)
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1995
1995
Similarities in biochemical findings have suggested that Salla disease (SD) and the infantile form of sialic acid storage disease… (More)
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1994
1994
Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder… (More)
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