Mucopolysaccharidoses

Known as: Mucopolysaccharidoses [Disease/Finding], Mucopolysaccharidosis 
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the… (More)
National Institutes of Health

Papers overview

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Review
2011
Review
2011
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for… (More)
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Highly Cited
2008
Highly Cited
2008
We have previously shown that glycosaminoglycan (GAG) storage in animal models of the mucopolysaccharidoses (MPS) leads to… (More)
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Highly Cited
2007
Highly Cited
2007
Neurogenetic disorders typically affect cells throughout the brain. Adeno-associated virus (AAV) vector-mediated transfer of a… (More)
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Highly Cited
2006
Highly Cited
2006
Mucopolysaccharidoses (MPS) are inherited, severe, progressive, metabolic disorders caused by deficiencies in different enzymes… (More)
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Highly Cited
2006
Highly Cited
2006
Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most… (More)
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Highly Cited
2006
Highly Cited
2006
OBJECTIVE The objective of this Phase 3 study was to confirm the efficacy and safety of recombinant human arylsulfatase B (rhASB… (More)
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Review
2004
Review
2004
  • Seung Up Kim
  • Neuropathology : official journal of the Japanese…
  • 2004
Existence of multipotent neural stem cells (NSC) has been known in developing or adult mammalian CNS, including humans. NSC have… (More)
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Highly Cited
2003
Highly Cited
2003
Alpha-N-acetylglucosaminidase deficiency (mucopolysaccharidosis IIIB, MPS IIIB) and alpha-l-iduronidase deficiency (MPS I) are… (More)
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Review
2003
Review
2003
An epidemiological study of the mucopolysaccharidoses in Western Australia (WA) using multiple ascertainment sources was carried… (More)
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Highly Cited
1989
Highly Cited
1989
Glycosaminoglycans (GAGs) are measured in urine to screen for mucopolysaccharidoses. Other assay procedures are only qualitative… (More)
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