Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients (Q35102698)

6 August 2017

title

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients (English)

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6 August 2017

main subject

mucopolysaccharidosis I

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Latifa Chkioua

1

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6 August 2017

Souhir Khedhiri

2

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6 August 2017

Hadhami Ben Turkia

3

1 reference

6 August 2017

Rémy Tcheng

4

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6 August 2017

Roseline Froissart

5

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6 August 2017

Henda Chahed

6

1 reference

6 August 2017

Salima Ferchichi

7

1 reference

6 August 2017

Marie Françoise Ben Dridi

8

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6 August 2017

Christine Vianey-Saban

9

1 reference

6 August 2017

Sandrine Laradi

10

1 reference

6 August 2017

Abdelhedi Miled

11

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6 August 2017

publication date

3 June 2011

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6 August 2017

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6 August 2017

volume

6

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6 August 2017

page(s)

47

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Creative Commons Attribution 2.0 Generic

6 August 2017

copyright license

start time

3 June 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

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Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

9 July 2018

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Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease

9 July 2018

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Incidence of mucopolysaccharidoses in Tunisia

9 July 2018

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Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms

9 July 2018

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Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families

9 July 2018

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Crystal structure of beta-D-xylosidase from Thermoanaerobacterium saccharolyticum, a family 39 glycoside hydrolase

9 July 2018

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Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.

9 July 2018

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Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

9 July 2018

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Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

9 July 2018

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9 July 2018

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9 July 2018

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alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype

9 July 2018

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A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype

9 July 2018

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A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromes

9 July 2018

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[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families]

9 July 2018

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Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

27 September 2018

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Clinico-biologic and molecular study of mucopolysaccharidosis in central and southern Tunisia

27 September 2018

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Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients

27 September 2018

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Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene

27 September 2018

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Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

27 September 2018

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https://api.crossref.org/works/10.1186%2F1746-1596-6-47

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

21 January 2018

1 reference

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https://pubmed.ncbi.nlm.nih.gov/21639919

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations among Italian mucopolysaccharidosis type I patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21639919

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A homology model for human alpha-l-iduronidase: insights into human disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21639919

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1746-1596-6-47

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference