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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2013
2013
Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked… (More)
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2003
2003
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
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
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
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
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
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
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 (ISSD: McKusick 26992) is a rare disorder related to Salla disease (McKusick 26874) and… (More)
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1986
1986
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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