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Hyaluronidase Deficiency

Known as: Mucopolysaccharidosis Type IX, MUCOPOLYSACCHARIDOSIS, TYPE IX, MPS9 
An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short… 
National Institutes of Health

Papers overview

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2016
2016
Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan… 
2012
2012
In the last years, rare and ultra rare diseases have attracted worldwide more and more attention. However, there is no universal… 
Highly Cited
2011
Highly Cited
2011
We describe a single consanguineous family with three affected children exhibiting knee and/or hip pain associated with swelling… 
2009
2009
Objectif de l'etude: evaluer l'impact d'une phytotherapie sur les troubles mineurs du sommeil et l'anxiete legere. Materiel et… 
Highly Cited
2008
Highly Cited
2008
The metabolism of hyaluronan (HA) re lies on HA synthases and hyaluronidases, among which hyaluronidase‐1 (HYAL1) and ‐2 (HYAL2… 
2002
2002
Hyaluronidases are required for the breakdown of hyaluronan (HA), an abundant component of the extracellular matrix of vertebrate… 
Review
2001
Review
2001
A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there… 
Highly Cited
1999
Highly Cited
1999
Hyaluronan (HA), a large glycosaminoglycan abundant in the extracellular matrix, is important in cell migration during embryonic… 
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Highly Cited
1996
Highly Cited
1996
The mucopolysaccharidoses are lysosomal storage disorders caused by a genetic deficiency of enzymes that catalyze the degradation…