Mucopolysaccharidosis IV

Known as: Type IVs, Mucopolysaccharidosis, IVs, Mucopolysaccharidosis Type, osteochondrodysplasia 
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and… (More)
National Institutes of Health

Papers overview

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2010
2010
Cartilage-associated protein (CRTAP) is an essential cofactor for the proper post-translational chain modification and collagen… (More)
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2010
2010
We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects… (More)
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Review
2009
Review
2009
Classical osteogenesis imperfecta (OI) is a dominant genetic disorder of connective tissue caused by mutations in either of the… (More)
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2009
2009
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named… (More)
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Highly Cited
2005
Highly Cited
2005
Human genetic studies indicate that mutations in type IX and XI collagens result in early-onset osteoarthritis (OA) with a wide… (More)
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2002
2002
Wolcott-Rallison syndrome (WRS) is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes… (More)
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Highly Cited
1997
Highly Cited
1997
We have identified a gene product (NKT) encoding an apparently novel transcript that appears to be related to the organic ion… (More)
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1993
1993
Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with… (More)
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1982
1982
In 1972, Wolcott and Rallison described three siblings with a combination of infancy-onset diabetes mellitus and multiple… (More)
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1977
1977
The hearing status of 18 patients with Morquio's syndrome (mucopolysaccharidosis IV) was evaluated. All three patients under age… (More)
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