(Q35102698)

6 August 2017

title

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

1 reference

6 August 2017

main subject

mucopolysaccharidosis I

1 reference

Latifa Chkioua

1

1 reference

6 August 2017

Souhir Khedhiri

2

1 reference

6 August 2017

Hadhami Ben Turkia

3

1 reference

6 August 2017

Rémy Tcheng

4

1 reference

6 August 2017

Roseline Froissart

5

1 reference

6 August 2017

Henda Chahed

6

1 reference

6 August 2017

Salima Ferchichi

7

1 reference

6 August 2017

Marie Françoise Ben Dridi

8

1 reference

6 August 2017

Christine Vianey-Saban

9

1 reference

6 August 2017

Sandrine Laradi

10

1 reference

6 August 2017

Abdelhedi Miled

11

1 reference

6 August 2017

publication date

3 June 2011

1 reference

6 August 2017

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6 August 2017

volume

6

1 reference

6 August 2017

page(s)

47

1 reference

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

Incidence of mucopolysaccharidoses in Tunisia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

Human alpha-L-iduronidase: cDNA isolation and expression

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

Structure and sequence of the human alpha-L-iduronidase gene

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135498

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

27 September 2018

1 reference

Crossref

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

PubMed

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