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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… 
National Institutes of Health

Related topics

Related topics

25 relations
Autosomal recessive inheritanceCervical myelopathyChondroitinsulfatasesGALNS Deficiency

Broader (1)

Mucopolysaccharidosis IV

Papers overview

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Highly Cited
2015
Highly Cited
2015
Mortality in patients with morquio syndrome a.
BACKGROUND Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease… 
Review
2014
Review
2014
International Guidelines for the Management and Treatment of Morquio A Syndrome
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities… 
Review
2014
Review
2014
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases
BackgroundMorquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and… 
Highly Cited
2012
Highly Cited
2012
The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.
Review
2011
Review
2011
An epidemiologic and clinical overview of medical and psychopathological comorbidities in major psychoses
The presence of comorbidity in major psychoses (e.g., schizophrenia and psychotic subtypes of bipolar disorder and major… 
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… 
Highly Cited
2010
Highly Cited
2010
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage… 
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.
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… 
Highly Cited
1988
Highly Cited
1988
Clinical findings in 12 patients with MPS IV A (Morquio's disease)
Clinical heterogeneity in MPS IV A (Mucopolysaccharidosis IV A, Morquio Disease Type A) has become more clearly identified in… 
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