(Q39160581)

9 September 2017

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients (English)

1 reference

9 September 2017

10

Desnick RJ

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9 September 2017

Laradi S

1

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9 September 2017

Tukel T

2

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9 September 2017

Khediri S

3

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9 September 2017

Shabbeer J

4

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9 September 2017

Erazo M

5

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9 September 2017

Chkioua L

6

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9 September 2017

Chaabouni M

7

1 reference

9 September 2017

Ferchichi S

8

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9 September 2017

Miled A

9

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9 September 2017

1 March 2006

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Molecular Genetics and Metabolism

9 September 2017

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9 September 2017

87

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9 September 2017

3

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9 September 2017

213-218

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Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation

9 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

Polymorphism in the GALNS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

The frequency of lysosomal storage diseases in The Netherlands.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

Incidence of the mucopolysaccharidoses in Northern Ireland

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

An update on the frequency of mucopolysaccharide syndromes in British Columbia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.001

10.1016/J.YMGME.2005.11.001

7 January 2021

Identifiers

DOI

1 reference

9 September 2017

1 reference