Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series (Q39515192)

12 September 2017

Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series (English)

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12 September 2017

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mucopolysaccharidosis I

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Abdellah Tebani

1

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author name string

Lahouaria Zanoutene-Cheriet

2

1 reference

12 September 2017

Zoubir Adjtoutah

3

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12 September 2017

Lenaig Abily-Donval

4

1 reference

12 September 2017

Carole Brasse-Lagnel

5

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12 September 2017

Annie Laquerrière

6

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12 September 2017

Stephane Marret

7

1 reference

12 September 2017

Abla Chalabi Benabdellah

8

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12 September 2017

Soumeya Bekri

9

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12 September 2017

language of work or name

English

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publication date

17 May 2016

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International Journal of Molecular Sciences

12 September 2017

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12 September 2017

17

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12 September 2017

5

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Creative Commons Attribution 4.0 International

12 September 2017

start time

17 May 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

The natural history of MPS I: global perspectives from the MPS I Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

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

12 September 2017

1 reference

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Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients.

12 September 2017

1 reference

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of hurler and sanfilippo diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

alpha-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts

25 September 2017

1 reference

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

17 June 2018

1 reference

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

17 June 2018

1 reference

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IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

17 June 2018

1 reference

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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

21 August 2018

1 reference

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4881565

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

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27196898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27196898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27196898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3390/IJMS17050743

1 reference

12 September 2017

1 reference

12 September 2017

1 reference