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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… Expand
National Institutes of Health

Papers overview

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2015
2015
Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan… Expand
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2012
2012
In the last years, rare and ultra rare diseases have attracted worldwide more and more attention. However, there is no universal… Expand
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2011
2011
We describe a single consanguineous family with three affected children exhibiting knee and/or hip pain associated with swelling… Expand
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2009
2009
Objectif de l'etude: evaluer l'impact d'une phytotherapie sur les troubles mineurs du sommeil et l'anxiete legere. Materiel et… Expand
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2008
2008
The metabolism of hyaluronan (HA) relies on HA synthases and hyaluronidases, among which hyaluronidase-1 (HYAL1) and -2 (HYAL2… Expand
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2002
2002
Hyaluronidases are required for the breakdown of hyaluronan (HA), an abundant component of the extracellular matrix of vertebrate… Expand
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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… Expand
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Highly Cited
1999
Highly Cited
1999
Hyaluronan (HA), a large glycosaminoglycan abundant in the extracellular matrix, is important in cell migration during embryonic… Expand
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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… Expand
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1996
1996
OBJECTIVE To determine whether absence of fertilization in IVF associated with an acrosomal enzyme defect (hyaluronidase… Expand
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