Infantile Sialic Acid Storage Disease

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

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21 relations
Autosomal recessive inheritanceBlepharoptosisByzanthine arch palateCerebral atrophy
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Sialuria

Papers overview

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2013
2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.
Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked… (More)
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2003
2003
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.
Lysosomal free sialic acid storage diseases are rare inborn errors of metabolism with autosomal recessive inheritance that are… (More)
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2002
2002
Complement C3b/C3d and cell surface polyanions are recognized by overlapping binding sites on the most carboxyl-terminal domain of complement factor H.
Factor H (FH) is a potent suppressor of the alternative pathway of C in plasma and when bound to sialic acid- or… (More)
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Highly Cited
1999
Highly Cited
1999
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
Sialic acid storage diseases (SASD, MIM 269920) are autosomal recessive neurodegenerative disorders that may present as a severe… (More)
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Highly Cited
1997
Highly Cited
1997
Myelin-associated Glycoprotein Interacts with Neurons via a Sialic Acid Binding Site at ARG118 and a Distinct Neurite Inhibition Site
Inhibitory components in myelin are largely responsible for the lack of regeneration in the mammalian CNS. Myelin-associated… (More)
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Review
1995
Review
1995
Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.
We report a case of infantile sialic acid storage disease (ISSD) in a black infant presenting in utero with nonimmune hydrops… (More)
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1992
1992
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease
We analysed urine and tissue specimens from two nephrotic infantile sialic acid storage disease patients (nISSD) for free and… (More)
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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… (More)
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1988
1988
Infantile sialic acid storage disease in two siblings
Infantile sialic acid storage disease (ISSD: McKusick 26992) is a rare disorder related to Salla disease (McKusick 26874) and… (More)
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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… (More)
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