(Q45345658)

13 December 2017

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). (English)

1 reference

13 December 2017

Shunji Tomatsu

1

1 reference

13 December 2017

Adriana M Montaño

2

1 reference

13 December 2017

Tatsuo Nishioka

3

1 reference

13 December 2017

Monica A Gutierrez

4

1 reference

13 December 2017

Olga M Peña

5

1 reference

13 December 2017

Georgeta G Tranda Firescu

6

1 reference

13 December 2017

Patricia Lopez

7

1 reference

13 December 2017

Seiji Yamaguchi

8

1 reference

13 December 2017

Akihiko Noguchi

9

1 reference

13 December 2017

Tadao Orii

10

1 reference

13 December 2017

1 December 2005

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13 December 2017

1 reference

13 December 2017

26

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13 December 2017

6

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13 December 2017

500-512

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Impaired degradation of keratan sulphate by Morquio A fibroblasts

13 December 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

The frequency of lysosomal storage diseases in The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Structure of a human lysosomal sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

The enzymic defects in Morquio and Maroteaux-Lamy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

An update on the frequency of mucopolysaccharide syndromes in British Columbia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Incidence of the mucopolysaccharidoses in Northern Ireland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Incidence of the mucopolysaccharidoses in Western Australia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Prevalence of lysosomal storage diseases in Portugal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20257

7 January 2021

Identifiers

DOI

10.1002/HUMU.20257

1 reference

13 December 2017

1 reference