(Q51762816)

11 April 2018

title

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. (English)

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11 April 2018

author name string

A M Montaño

1

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11 April 2018

S Tomatsu

2

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11 April 2018

G S Gottesman

3

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11 April 2018

M Smith

4

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11 April 2018

T Orii

5

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11 April 2018

publication date

8 March 2007

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11 April 2018

Journal of Inherited Metabolic Disease

published in

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11 April 2018

volume

30

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11 April 2018

issue

2

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11 April 2018

page(s)

165-174

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11 April 2018

https://scigraph.springernature.com/pub.10.1007/s10545-007-0529-7

exact match

0 references

cites work

Impaired degradation of keratan sulphate by Morquio A fibroblasts

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https://api.crossref.org/works/10.1007%2FS10545-007-0529-7

The frequency of lysosomal storage diseases in The Netherlands.

21 January 2018

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An update on the frequency of mucopolysaccharide syndromes in British Columbia

21 January 2018

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12 December 2020

The natural course of non-classic Pompe's disease; a review of 225 published cases

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prevalence of lysosomal storage diseases in Portugal

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prevalence of lysosomal storage disorders

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The enzymic defects in Morquio and Maroteaux-Lamy syndrome

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12 December 2020

Incidence of the mucopolysaccharidoses in Northern Ireland

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12 December 2020

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

1 reference

12 December 2020

Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

12 December 2020

10.1007/S10545-007-0529-7

Identifiers

DOI

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11 April 2018

PubMed ID

17347914

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11 April 2018