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GALNS gene

Known as: mucopolysaccharidosis type IVA, GAS, Morquio syndrome 
National Institutes of Health

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Mucopolysaccharidosis IVMucopolysaccharidosis type IVBMucopolysaccharidosis, MPS-IV-AN-acetylgalactosamine-6-sulfatase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Analysis of Sulfate Patterns in Glycosaminoglycan Oligosaccharides by MSn Coupled to Infrared Ion Spectroscopy: the Case of GalNAc4S and GalNAc6S
AbstractWe report distinctive spectroscopic fingerprints of the monosaccharide standards GalNAc4S and GalNAc6S by coupling mass… 
2015
2015
Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
2014
2014
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
2014
2014
Muskoskeletal manifestations of mild form of mucopolysaccharidosis iva - a clinical case
Mucopolysaccharidosis IVA (MPS IVA) is a rare inherited metabolic disorder caused by galactosamine-6-sulfate sulfatase (GALNS… 
2013
2013
Molecular genetic assay of mucopolysaccharidosis IVA in South China.
2012
2012
[GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB].
OBJECTIVE To report the results of clinical characteristics, enzyme activity determination and mutation analysis of GLB1 gene in… 
1999
1999
Enzymatic reconstruction of a hybrid glycosaminoglycan containing 6-sulfated, 4-sulfated, and unsulfated N-acetylgalactosamine.
Using the transglycosylation reaction of testicular hyaluronidase, reconstructions of hybrid glycosaminoglycans (GAGs) containing… 
Review
1997
Review
1997
Molecular basis of zellweger syndrome, β-ketothiolase deficiency and mucopolysaccharidoses
Summary1. A human peroxisome assembly factor-1 (PAF-1) complementary DNA has been cloned that restores the morphological and… 
1996
1996
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
Morquio disease (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase… 
1985
1985
Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses.
Sulphated N-acetylhexosamines have been isolated from human urine and tentatively identified as N-acetylglucosamine 6-sulphate… 
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