Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients (Q39160581)

9 September 2017

title

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

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10

Desnick RJ

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Laradi S

1

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Tukel T

2

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Khediri S

3

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Shabbeer J

4

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Erazo M

5

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Chkioua L

6

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Chaabouni M

7

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Ferchichi S

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Miled A

9

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publication date

1 March 2006

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Molecular Genetics and Metabolism

9 September 2017

published in

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volume

87

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issue

3

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page(s)

213-218

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

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

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

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

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

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

7 January 2021

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

7 January 2021

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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

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

7 January 2021

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

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

7 January 2021

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

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Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship

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7 January 2021

Identifiers

DOI

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9 September 2017

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