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Type I Mucolipidosis

Known as: CHERRY RED SPOT--MYOCLONUS SYNDROME, MYOCLONUS--CHERRY RED SPOT SYNDROME, Mucolipidoses, Type I 
An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid… Expand
National Institutes of Health

Papers overview

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Review
2009
Review
2009
Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora disease, Unverricht-Lundborg disease, the… Expand
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Highly Cited
2008
Highly Cited
2008
Lysosomal exocytosis is a Ca2+-regulated mechanism that involves proteins responsible for cytoskeletal attachment and fusion of… Expand
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Highly Cited
2006
Highly Cited
2006
We have established previously that the 67-kDa elastin-binding protein (EBP), identical to the spliced variant of β-galactosidase… Expand
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Highly Cited
2005
Highly Cited
2005
Gangliosides play key roles in cell differentiation, cell-cell interactions, and transmembrane signaling. Sialidases hydrolyze… Expand
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Highly Cited
2004
Highly Cited
2004
Objective. To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass… Expand
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Highly Cited
2002
Highly Cited
2002
In this report we demonstrate that soluble peptides, elastin degradation products stimulate proliferation of arterial smooth… Expand
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Highly Cited
1999
Highly Cited
1999
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited… Expand
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Highly Cited
1998
Highly Cited
1998
Human lysosomal N-acetyl-alpha-neuraminidase is deficient in two lysosomal storage disorders, sialidosis, caused by structural… Expand
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Highly Cited
1997
Highly Cited
1997
Sialidase (neuraminidase, EC 3.2.1.18) catalyses the hydrolysis of terminal sialic acid residues of glyconjugates. Sialidase has… Expand
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Highly Cited
1982
Highly Cited
1982
In normal human fibroblasts, an enzymically active 85,000-dalton precursor form of beta-galactosidase is processed, via a number… Expand
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