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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

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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… 
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… 
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… 
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… 
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… 
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… 
Review
2001
Review
2001
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.
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
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… 
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… 
1969
1969
[Glycogenosis type II (Pompe's disease) associated with alpha-amylase and hyaluronidase deficiency].
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