Mucopolysaccharidosis I

Known as: iduronidase deficiency disease, Mucopolysaccharidosis 1, Lipochondrodystrophies 
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical… (More)
National Institutes of Health

Papers overview

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2015
2015
OBJECTIVE Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to… (More)
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Highly Cited
2011
Highly Cited
2011
BACKGROUND Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of… (More)
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2011
2011
Our objective was to assess how the diagnosis and treatment of mucopolysaccharidosis I (MPS I) have changed over time. We used… (More)
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Highly Cited
2008
Highly Cited
2008
In mucopolysaccharidosis I, deficiency of alpha-L-iduronidase can cause spinal cord compression (SCC) due to storage of… (More)
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Highly Cited
2007
Highly Cited
2007
OBJECTIVE Our objective was to evaluate the safety, pharmacokinetics, and efficacy of laronidase in young, severely affected… (More)
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Highly Cited
2007
Highly Cited
2007
A global, observational disease registry has been established to characterize the course of disease and track clinical outcomes… (More)
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2007
2007
Mucopolysaccharidosis I (MPS I) (Hurler syndrome) is due to deficient alpha-L-iduronidase (IDUA) activity and is the most common… (More)
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2005
2005
Mucopolysaccharidosis I (MPS I) due to deficient alpha-L-iduronidase (IDUA) activity results in accumulation of… (More)
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2004
2004
The catabolism of glycosaminoglycans begins with endohydrolysis of polysaccharides to oligosaccharides followed by the sequential… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We… (More)
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