(Q33911824)

30 July 2017

title

Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria (English)

1 reference

30 July 2017

author name string

Ibtihel Benhaj Mbarek

1

1 reference

30 July 2017

Saoussen Abroug

2

1 reference

30 July 2017

Asma Omezzine

3

1 reference

30 July 2017

Dorsaf Zellama

4

1 reference

30 July 2017

Abdellatif Achour

5

1 reference

30 July 2017

Abdelaziz Harbi

6

1 reference

30 July 2017

Ali Bouslama

7

1 reference

30 July 2017

publication date

25 May 2011

1 reference

30 July 2017

1 reference

30 July 2017

volume

12

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30 July 2017

page(s)

25

1 reference

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

30 July 2017

cites work

1 reference

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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

5 July 2018

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The role of preemptive liver transplantation in primary hyperoxaluria type 1.

5 July 2018

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Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele

5 July 2018

1 reference

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Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis

5 July 2018

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Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123632

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123632

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

5 July 2018

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The primary hyperoxalurias

5 July 2018

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Chronic renal failure in Iranian children

5 July 2018

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Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123632

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123632

End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcome

5 July 2018

1 reference

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ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case

5 July 2018

1 reference

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Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123632

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123632

A simple salting out procedure for extracting DNA from human nucleated cells

5 July 2018

1 reference

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Primary hyperoxaluria type I.

5 July 2018

1 reference

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Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase

5 July 2018

1 reference

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Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123632

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

5 July 2018

1 reference

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Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

5 July 2018

1 reference

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The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.

21 January 2018

1 reference

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Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results

21 January 2018

1 reference

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One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experience

21 January 2018

1 reference

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Primary hyperoxaluria in children in central Tunisia

21 January 2018

1 reference

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AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

29 October 2018

1 reference

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Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group

29 October 2018

1 reference

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Diagnostic biochimique et moléculaire de l’hyperoxalurie primaire de type 1 : étude tunisienne à propos de 15 cas

29 October 2018

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12 December 2020

End-stage renal disease in Kuwaiti children: an 8-year experience

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12 December 2020

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

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12 December 2020

Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique

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12 December 2020

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT)

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12 December 2020

The clinical spectrum of the primary hyperoxalurias and their treatment

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12 December 2020

The results of combined liver/kidney transplantation for primary hyperoxaluria (PH1) 1984-1997. The European PH1 transplant registry report. European PH1 Transplantation Study Group

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12 December 2020

The primary hyperoxalurias

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12 December 2020

Identifiers

DOI

10.1186/1471-2369-12-25

1 reference

Dimensions Publication ID

30 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2369-12-25

9 September 2019

1 reference

30 July 2017

1 reference