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Mucopolysaccharidosis, MPS-IV-A

Known as: MPS IVA, Mucopolysaccharidosis Type IV A, Disease, Morquio A 
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal… Expand
National Institutes of Health

Related topics

Related topics

25 relations
Autosomal recessive inheritanceCervical myelopathyChondroitinsulfatasesGALNS Deficiency
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Broader (1)

Mucopolysaccharidosis IV

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
The natural history of MPS I: global perspectives from the MPS I Registry
Purpose:In this study, we aimed to describe the natural history of mucopolysaccharidosis I.Methods:Data from 1,046 patients who… Expand
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2014
2014
Mortality in patients with morquio syndrome a.
BACKGROUND Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease… Expand
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Highly Cited
2011
Highly Cited
2011
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
BackgroundMucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of… Expand
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Highly Cited
2010
Highly Cited
2010
Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model.
Type I mucopolysaccharidosis (MPS I) is a lysosomal storage disorder caused by the deficiency of α-L-iduronidase, which results… Expand
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Highly Cited
2010
Highly Cited
2010
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.
Mucopolysaccharidosis type I (MPS I) is a progressive and multisystemic disease, even in its attenuated Hurler-Scheie and Scheie… Expand
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Highly Cited
2008
Highly Cited
2008
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I.
Mucopolysaccharidoses (MPSs) are lysosomal storage diseases caused by a deficit in the enzymes needed for glycosaminoglycan (GAG… Expand
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Highly Cited
2007
Highly Cited
2007
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.
A global, observational disease registry has been established to characterize the course of disease and track clinical outcomes… Expand
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Highly Cited
2007
Highly Cited
2007
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years.
Recombinant human alpha-L-iduronidase (Aldurazyme, laronidase) was approved as an enzyme replacement therapy for patients with… Expand
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Highly Cited
2004
Highly Cited
2004
Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I.
Enzyme replacement therapy (ERT) has been developed for several lysosomal storage disorders, including mucopolysaccharidosis I… Expand
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Highly Cited
2001
Highly Cited
2001
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
Abstract. The lysosomal storage disorder, mucopolysaccharidosis type I (MPS I), is caused by a deficiency of the enzyme α-L… Expand
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