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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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Objective This update of a 2011 guideline developed by the American Academy of Otolaryngology–Head and Neck Surgery Foundation… Expand
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Review
2017
Review
2017
Glycosaminoglycans (GAGs) are long blocks of negatively charged polysaccharides. They are one of the major components of the… Expand
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Review
2016
Review
2016
Introduction: Ocular targeted therapy has enormously been advanced by implementation of new methods of drug delivery and… Expand
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Highly Cited
2004
Highly Cited
2004
OBJECTIVE To confirm the efficacy and safety of recombinant human alpha-L-iduronidase (laronidase) in patients with… Expand
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Highly Cited
2003
Highly Cited
2003
α-N-Acetylglucosaminidase deficiency (mucopolysaccharidosis IIIB, MPS IIIB) and α-l-iduronidase deficiency (MPS I) are heritable… Expand
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Highly Cited
2002
Highly Cited
2002
Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal… Expand
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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… Expand
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Highly Cited
1995
Highly Cited
1995
MANY metabolic diseases affecting the central nervous system are refractory to treatment because the blood–brain barrier… Expand
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Highly Cited
1976
Highly Cited
1976
Deformations and disruptions Teratogenic agents Chromosomal syndromes I: common and/or well known syndromes Chromosomal syndromes… Expand
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Highly Cited
1970
Highly Cited
1970
 
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