Literature DB >> 15669677

Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

P Trioche1, F Petit, J Francoual, V Gajdos, L Capel, C Poüs, P Labrune.   

Abstract

Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose-6-phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>C (L229P).

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Year:  2004        PMID： 15669677     DOI： 10.1023/b:boli.0000042987.43395.c6

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  6 in total

1.  The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Authors:  M Veiga-da-Cunha; I Gerin; Y T Chen; P J Lee; J V Leonard; I Maire; U Wendel; M Vikkula; E Van Schaftingen
Journal:  Eur J Hum Genet       Date:  1999-09       Impact factor: 4.246

2.  Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.

Authors:  G Visser; J P Rake; J Fernandes; P Labrune; J V Leonard; S Moses; K Ullrich; G P Smit
Journal:  J Pediatr       Date:  2000-08       Impact factor: 4.406

3.  Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Authors:  Dietrich Matern; Hans Hermann Seydewitz; Deeksha Bali; Christine Lang; Yuan-Tsong Chen
Journal:  Eur J Pediatr       Date:  2002-07-27       Impact factor: 3.183

4.  Mutation analysis in glycogen storage disease type 1 non-a.

Authors:  A R Janecke; M Lindner; M Erdel; E Mayatepek; D Möslinger; T Podskarbi; F Fresser; S Stöckler-Ipsiroglu; G F Hoffmann; G Utermann
Journal:  Hum Genet       Date:  2000-09       Impact factor: 4.132

5.  Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.

Authors:  C W Lam; S Y Sin; E T Lau; Y Y Lam; P Poon; S F Tong
Journal:  Prenat Diagn       Date:  2000-09       Impact factor: 3.050

6.  A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Authors:  M Veiga-da-Cunha; I Gerin; Y T Chen; T de Barsy; P de Lonlay; C Dionisi-Vici; C D Fenske; P J Lee; J V Leonard; I Maire; A McConkie-Rosell; S Schweitzer; M Vikkula; E Van Schaftingen
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025
  6 in total
  3 in total

1.  Mutation spectrum of type I glycogen storage disease in Hungary.

Authors:  G Miltenberger-Miltenyi; L Szonyi; L Balogh; G Utermann; A R Janecke
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

Authors:  Shih-Yin Chen; Chi-Jiunn Pan; Soojung Lee; Wentao Peng; Janice Y Chou
Journal:  Mol Genet Metab       Date:  2008-10-02       Impact factor: 4.797

Review 3.  Glucose-6-phosphatase deficiency.

Authors:  Roseline Froissart; Monique Piraud; Alix Mollet Boudjemline; Christine Vianey-Saban; François Petit; Aurélie Hubert-Buron; Pascale Trioche Eberschweiler; Vincent Gajdos; Philippe Labrune
Journal:  Orphanet J Rare Dis       Date:  2011-05-20       Impact factor: 4.123
  3 in total

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