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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

Related topics

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2 relations

Broader (2)

HyaluronidaseMucopolysaccharidoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis.
Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan… Expand
2012
2012
Rare and Ultra Rare Diseases
In the last years, rare and ultra rare diseases have attracted worldwide more and more attention. However, there is no universal… Expand
Highly Cited
2011
Highly Cited
2011
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis
We describe a single consanguineous family with three affected children exhibiting knee and/or hip pain associated with swelling… Expand
2009
2009
Évaluation d'une phytothérapie dans le traitement des troubles mineurs du sommeil et de l'anxiété légère
Objectif de l'etude: evaluer l'impact d'une phytotherapie sur les troubles mineurs du sommeil et l'anxiete legere. Materiel et… Expand
Highly Cited
2008
Highly Cited
2008
Skeletal and hematological anomalies in HYAL2‐deficient mice: a second type of mucopolysaccharidosis IX?
The metabolism of hyaluronan (HA) re lies on HA synthases and hyaluronidases, among which hyaluronidase‐1 (HYAL1) and ‐2 (HYAL2… Expand
2002
2002
Characterization of the Murine Hyaluronidase Gene Region Reveals Complex Organization and Cotranscription ofHyal1 with Downstream Genes, Fus2 andHyal3 *
Hyaluronidases are required for the breakdown of hyaluronan (HA), an abundant component of the extracellular matrix of vertebrate… Expand
Highly Cited
1999
Highly Cited
1999
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
Hyaluronan (HA), a large glycosaminoglycan abundant in the extracellular matrix, is important in cell migration during embryonic… Expand
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Review
1998
Review
1998
[Congenital hyaluronidase deficiency].
  • T. Ohashi
  • Ryoikibetsu shokogun shirizu
  • 1998
    • Corpus ID: 33568188
 
Highly Cited
1996
Highly Cited
1996
Clinical and biochemical manifestations of hyaluronidase deficiency.
The mucopolysaccharidoses are lysosomal storage disorders caused by a genetic deficiency of enzymes that catalyze the degradation… Expand
1969
1969
[Glycogenosis type II (Pompe's disease) associated with alpha-amylase and hyaluronidase deficiency].
 
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