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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… 
2004
2004
Sialin expression in the CNS implicates extralysosomal function in neurons
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… 
2002
2002
Infantile Sexuality and Attachment
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… 
1998
1998
Purification of the Lysosomal Sialic Acid Transporter
Sialic acid and glucuronic acid are monocarboxylated monosaccharides, which are normally present in sugar side chains of… 
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… 
Highly Cited
1968
Highly Cited
1968
A SECOND TYPE OF LATE INFANTILE AMAUROTIC IDIOCY WITH MULTILAMELLAR CYTOSOMES
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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