FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1981-2018
0102019812018

Related topics

Related topics

23 relations
Autosomal recessive inheritanceCervical myelopathyChondroitinsulfatasesGALNS gene
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Broader (1)

Mucopolysaccharidosis IV

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Mucopolysaccharidosis, MPS-IV-A
Osteoporosis
hearing impairment
Autosomal recessive inheritance
Scoliosis, unspecified
Heart valve disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
OBJECTIVES The objectives of this study are to quantify endurance and respiratory function and better characterize spectrum of… (More)
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2013
2013
Diagnosing mucopolysaccharidosis IVA
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a… (More)
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2012
2012
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Lysosomal enzymes catalyze the breakdown of macromolecules in the cell. In humans, loss of activity of a lysosomal enzyme leads… (More)
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2008
2008
Enzyme replacement therapy in a murine model of Morquio A syndrome.
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate… (More)
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Highly Cited
2007
Highly Cited
2007
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N… (More)
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2005
2005
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal-recessive disorder caused by a deficiency of lysosomal N… (More)
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2004
2004
Development and Testing of New Screening Method for Keratan Sulfate in Mucopolysaccharidosis IVA
Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage… (More)
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1999
1999
Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty.
BACKGROUND The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with… (More)
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1994
1994
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.
Mucopolysaccharidosis IV A (MPS IV A) is the result of a genetic deficiency in a lysosomal hydrolase, N-acetylgalactosamine-6… (More)
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1990
1990
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).
4-Methylumbelliferyl-beta-D-galactopyranoside-6-sulphate was synthesized and used for the determination of galactose-6-sulphate… (More)
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