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Infantile Sialic Acid Storage Disease

Known as: Infantile Form Sialurias, INFANTILE SIALIC ACID STORAGE DISORDER, Infantile Form Sialuria 
National Institutes of Health

Related topics

Related topics

21 relations
Autosomal recessive inheritanceBlepharoptosisByzanthine arch palateCerebral atrophy

Broader (1)

Sialuria

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Sialyl-Lewis x-Independent Infection of Human Myeloid Cells by Anaplasma phagocytophilum Strains HZ and HGE1
ABSTRACT Anaplasma phagocytophilum, the causative agent of human granulocytic anaplasmosis, is an obligate intracellular… 
2006
2006
Characterization of a sialic acid‐ and P‐selectin glycoprotein ligand‐1‐independent adhesin activity in the granulocytotropic bacterium Anaplasma phagocytophilum
Anaplasma phagocytophilum, the aetiologic agent of human granulocytic anaplasmosis, is an obligate intracellular bacterium that… 
Review
2003
Review
2003
Sialic acid storage disease and related disorders.
This paper gives an overview of the two sialic acid storage disorders, Salla disease and infantile sialic acid storage disease… 
2001
2001
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families
Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited… 
1995
1995
Strategy for the investigation of O-linked oligosaccharides from mucins based on the separation into neutral, sialic acid- and sulfate-containing species
A method for the separation of O-linked oligosaccharides into neutral, sialic acid-containing and sulfated species was applied to… 
1994
1994
Synthesis of sialyl Lewis X ganglioside and analogs.
1992
1992
Changes in saliva of epileptic patients.
Unstimulated whole saliva samples of 27 indoor epileptic patients were studied on their protein composition using biochemical and… 
1990
1990
Nephrosis in two siblings with infantile sialic acid storage disease
The diagnosis of infantile sialic acid storage disease (ISSD) was established in two siblings on the basis of typical clinical… 
1986
1986
Infantile Sialic Acid Storage Disease: The Fate of Biosynthetically Labeled N-Acetyl-(3H)-Neuraminic Acid in Cultured Human Fibroblasts
ABSTRACT. N-acetyl-(3H)-mannosamine [(3H)-ManNAc] was used as a precursor for the metabolic labeling of Nacetyl-(3H)-neuraminic… 
Highly Cited
1957
Highly Cited
1957
Colominic Acid, a Substance of Bacterial Origin related to Sialic Acid
SOME years ago, it was found that a mucoprotein derived from submaxillary mucin contained an acidic component which was termed… 
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